ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.*105C>T

gnomAD frequency: 0.00107  dbSNP: rs777244703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339856 SCV000482838 likely benign X-linked mixed hearing loss with perilymphatic gusher 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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