ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)

dbSNP: rs386833765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725502 SCV000700995 pathogenic not provided 2015-11-17 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814033 SCV002061420 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2 2021-06-27 criteria provided, single submitter clinical testing PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV005025102 SCV005660506 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-03-27 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049729 SCV000082136 probable-pathogenic Meckel syndrome, type 6 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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