ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.512C>T (p.Ala171Val)

gnomAD frequency: 0.00001  dbSNP: rs1555341850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518702 SCV000613518 uncertain significance not specified 2017-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481672 SCV002778282 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher 2022-03-29 criteria provided, single submitter clinical testing

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