ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1424+18A>C

gnomAD frequency: 0.31486  dbSNP: rs12581781
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001716794 SCV001939598 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730993 SCV001981162 benign Pachyonychia congenita 3 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001716794 SCV002378368 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001716794 SCV005229532 benign not provided criteria provided, single submitter not provided

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