ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.1023C>T (p.Gly341=)

dbSNP: rs780345670
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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 RCV000907892 SCV001052621 likely benign not provided 2023-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000907892 SCV002006308 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502713 SCV002813659 likely benign Branchiootorenal syndrome 2 2021-12-23 criteria provided, single submitter clinical testing

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