ClinVar Miner

Submissions for variant NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) (rs1861050)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000114165 SCV000306425 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269461 SCV000447700 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329244 SCV000447701 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860404 SCV001000446 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Mendelics RCV000987414 SCV001136704 benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114165 SCV000147716 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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