ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.915C>T (p.Phe305=)

gnomAD frequency: 0.00002  dbSNP: rs370303254
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000905109 SCV001049674 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495474 SCV002801580 likely benign Branchiootorenal syndrome 2 2021-09-22 criteria provided, single submitter clinical testing

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