ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1203+13A>G

gnomAD frequency: 0.02469  dbSNP: rs56654203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002086001 SCV002388506 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498308 SCV002805541 likely benign Pachyonychia congenita 3 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002086001 SCV005229536 benign not provided criteria provided, single submitter not provided

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