ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1260G>A (p.Leu420=)

gnomAD frequency: 0.00003  dbSNP: rs749099410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861913 SCV001002330 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816936 SCV002072181 likely benign not specified 2020-07-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918331 SCV004736541 likely benign MKS1-related condition 2020-05-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001825711 SCV002087624 likely benign Meckel syndrome, type 1 2020-03-12 no assertion criteria provided clinical testing

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