ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)

dbSNP: rs1577406415
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Total submissions: 2
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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 RCV001261606 SCV001438890 likely pathogenic Meckel syndrome, type 6 criteria provided, single submitter clinical testing
Baylor Genetics RCV001261606 SCV001521089 likely pathogenic Meckel syndrome, type 6 2019-12-24 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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