ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1299G>T (p.Thr433=)

dbSNP: rs749503564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081484 SCV002423533 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-11-05 criteria provided, single submitter clinical testing

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