ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.15T>G (p.Pro5=)

gnomAD frequency: 0.00004  dbSNP: rs1366167968
Minimum review status: Collection method:
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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 RCV002085705 SCV002381013 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494173 SCV002795194 likely benign Branchiootorenal syndrome 2 2022-01-17 criteria provided, single submitter clinical testing

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