ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.249G>A (p.Lys83=)

gnomAD frequency: 0.00024  dbSNP: rs62636631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000374515 SCV000335784 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087359 SCV001009048 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-08 criteria provided, single submitter clinical testing

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