ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) (rs4784320)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000114221 SCV000171378 benign not specified 2014-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000114221 SCV000312481 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263578 SCV000397733 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318666 SCV000397734 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354830 SCV000397735 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860438 SCV001000493 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114221 SCV000147778 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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