ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.455A>G (p.Asn152Ser)

gnomAD frequency: 0.00001  dbSNP: rs1181172841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546816 SCV001766402 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005014585 SCV005643952 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-04-12 criteria provided, single submitter clinical testing

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