ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4407C>A (p.Ser1469Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039030 SCV005664599 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-01-18 criteria provided, single submitter clinical testing

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