ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.474C>T (p.Ala158=)

gnomAD frequency: 0.00008  dbSNP: rs199743522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547625 SCV000641690 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV001591237 SCV001826660 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483424 SCV002797311 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; Branchiootorenal syndrome 1 2022-04-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962521 SCV004782968 likely benign SIX1-related condition 2020-01-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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