ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.375A>G (p.Gln125=)

gnomAD frequency: 0.00009  dbSNP: rs372557648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471920 SCV001676043 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908719 SCV004723234 likely benign RPGRIP1-related disorder 2020-09-15 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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