ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3701+19A>C

gnomAD frequency: 0.00099  dbSNP: rs199926524
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609416 SCV000716336 likely benign not specified 2017-02-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062981 SCV002389646 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491250 SCV002801699 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-11-16 criteria provided, single submitter clinical testing

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