ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)

dbSNP: rs1720848250
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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 RCV001261605 SCV001438888 likely pathogenic Meckel syndrome, type 6 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003987820 SCV004805050 uncertain significance Joubert syndrome 9 2024-03-17 criteria provided, single submitter research

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