ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)

gnomAD frequency: 0.00001  dbSNP: rs368720062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114180 SCV000147732 likely pathogenic Meckel-Gruber syndrome 2013-10-29 criteria provided, single submitter clinical testing
GeneDx RCV002284363 SCV002574631 likely pathogenic not provided 2022-09-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005031597 SCV005664597 uncertain significance Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-05-18 criteria provided, single submitter clinical testing

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