ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)

gnomAD frequency: 0.00001  dbSNP: rs780770984
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598220 SCV000706013 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000817532 SCV000958098 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000598220 SCV001772122 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002476313 SCV002789732 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-04-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271341 SCV001452426 uncertain significance Familial aplasia of the vermis 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530699 SCV004743786 likely benign RPGRIP1L-related disorder 2022-03-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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