ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.252C>G (p.Leu84=)

gnomAD frequency: 0.00003  dbSNP: rs969699321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607091 SCV000727857 likely benign not specified 2018-02-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066611 SCV002487748 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-01-29 criteria provided, single submitter clinical testing

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