Variant not called in MIP-analysis

[AnnHam]

Issue: Case F0059468 (cust002) have a pathogenic variant in KRT6B that was not called in the WGS analysis. We found out that our patient's sister with the same disease was analyzed in another laboratory and got a genetic diagnosis. So by backtracking in IGV we see the variant.

The variant is NM_005555.4 (KRT6B):c.516_518del p.(Asn172del) - Location chr12:52,845,345-52,845,347 (hg19)

In IGV it looks a little bit skewed but still 9 reads with the alternative allele (24 reads with the reference allele).