ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)

gnomAD frequency: 0.00118  dbSNP: rs74957591
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178300 SCV000230356 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing
Invitae RCV001080714 SCV000758425 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000178300 SCV001780931 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907614 SCV004720333 likely benign RPGRIP1L-related condition 2021-12-01 criteria provided, single submitter 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).
Natera, Inc. RCV001271342 SCV001452427 uncertain significance Familial aplasia of the vermis 2019-11-11 no assertion criteria provided clinical testing

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