ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.1368C>T (p.Leu456=)

gnomAD frequency: 0.00002  dbSNP: rs982154839
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904422 SCV001048938 likely benign not provided 2022-02-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487972 SCV002802592 likely benign Branchiootorenal syndrome 2 2022-04-21 criteria provided, single submitter clinical testing

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