ClinVar Miner

Submissions for variant NM_030578.4(B9D2):c.513C>T (p.Tyr171=)

gnomAD frequency: 0.00014  dbSNP: rs143680317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243012 SCV000314627 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861900 SCV001002314 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-06-26 criteria provided, single submitter clinical testing

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