ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)

dbSNP: rs786205508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000171263 SCV002024354 pathogenic not provided 2021-09-09 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171263 SCV000221460 likely pathogenic not provided flagged submission research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000256424 SCV000322785 pathogenic Meckel-Gruber syndrome no assertion criteria provided research

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