ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=)

gnomAD frequency: 0.00025  dbSNP: rs144924117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861732 SCV001002124 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-02-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276307 SCV001462440 likely benign Familial aplasia of the vermis 2020-06-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538181 SCV004739997 likely benign RPGRIP1L-related disorder 2019-09-17 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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