ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.1264C>T (p.Leu422=)

gnomAD frequency: 0.00052  dbSNP: rs193244455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916537 SCV001061779 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502772 SCV002810819 likely benign Branchiootorenal syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933057 SCV004750569 likely benign SIX5-related disorder 2019-07-02 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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