ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3702-16A>G

gnomAD frequency: 0.00030  dbSNP: rs372739127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423381 SCV000530000 likely benign not specified 2016-07-26 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 RCV001414332 SCV001616464 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481322 SCV002802888 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-15 criteria provided, single submitter clinical testing

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