ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001175193 SCV001438889 likely pathogenic Meckel syndrome type 6 criteria provided, single submitter clinical testing
Baylor Genetics RCV001175193 SCV001521088 pathogenic Meckel syndrome type 6 2020-07-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV001175193 SCV001338717 likely pathogenic Meckel syndrome type 6 no assertion criteria provided research

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