ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.543C>A (p.Gly181=)

gnomAD frequency: 0.00019  dbSNP: rs372584912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769574 SCV002004443 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001769574 SCV002386778 likely benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503243 SCV002804846 likely benign Branchiootorenal syndrome 2 2021-12-22 criteria provided, single submitter clinical testing

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