ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.198A>T (p.Val66=)

gnomAD frequency: 0.00019  dbSNP: rs28400029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348246 SCV000340303 uncertain significance not provided 2016-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000348246 SCV001118939 likely benign not provided 2024-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000348246 SCV001819115 likely benign not provided 2020-02-07 criteria provided, single submitter clinical testing

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