ClinVar Miner

Submissions for variant NM_175875.5(SIX5):c.108G>A (p.Leu36=)

gnomAD frequency: 0.00002  dbSNP: rs532927547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753040 SCV002006508 likely benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488620 SCV002797965 likely benign Branchiootorenal syndrome 2 2021-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001753040 SCV003451618 likely benign not provided 2022-05-12 criteria provided, single submitter clinical testing

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