ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.717C>T (p.Ala239=)

gnomAD frequency: 0.00510  dbSNP: rs111482521
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954042 SCV001100646 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000954042 SCV001772591 likely benign not provided 2021-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954042 SCV002063158 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000954042 SCV005226732 likely benign not provided criteria provided, single submitter not provided

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