ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1389G>T (p.Arg463=)

dbSNP: rs773269657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201691 SCV000256453 likely pathogenic Familial aplasia of the vermis 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001447386 SCV001650450 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-04-11 criteria provided, single submitter clinical testing

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