ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) (rs786205508)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171263 SCV000221460 likely pathogenic not provided no assertion criteria provided research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000256424 SCV000322785 pathogenic Meckel-Gruber syndrome no assertion criteria provided research
PerkinElmer Genomics RCV000171263 SCV002024354 pathogenic not provided 2021-09-09 no assertion criteria provided clinical testing

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