ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)

gnomAD frequency: 0.00146  dbSNP: rs139067427
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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) RCV000406622 SCV000340888 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001079200 SCV001004187 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000406622 SCV001150925 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000406622 SCV001771919 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26862157)
PreventionGenetics, part of Exact Sciences RCV003940030 SCV004752751 likely benign RPGRIP1L-related condition 2021-06-29 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. RCV001835759 SCV002085760 benign Familial aplasia of the vermis 2020-01-17 no assertion criteria provided clinical testing

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