ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.237C>G (p.Pro79=)

gnomAD frequency: 0.00295  dbSNP: rs149051059
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248529 SCV000312576 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089166 SCV000758429 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000841248 SCV000983206 likely benign not provided 2020-06-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000841248 SCV005212342 likely benign not provided criteria provided, single submitter not provided

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