ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4577C>A (p.Thr1526Asn)

gnomAD frequency: 0.00001  dbSNP: rs749265354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005038247 SCV005664612 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-04-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529570 SCV001743222 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529570 SCV001969487 uncertain significance not provided no assertion criteria provided clinical testing

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