ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.492C>T (p.Tyr164=)

gnomAD frequency: 0.00014  dbSNP: rs372293937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001759376 SCV002006272 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001759376 SCV002443613 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488619 SCV002795445 likely benign Branchiootorenal syndrome 2 2021-09-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892837 SCV004717706 likely benign SIX5-related disorder 2021-05-17 no assertion criteria provided 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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