ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.1629C>T (p.Asn543=)

gnomAD frequency: 0.00001  dbSNP: rs768534722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959876 SCV002207919 likely benign not provided 2022-04-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507620 SCV002807732 likely benign Branchiootorenal syndrome 2 2021-12-14 criteria provided, single submitter clinical testing

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