ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3582C>T (p.Phe1194=)

gnomAD frequency: 0.00002  dbSNP: rs746471434
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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 RCV001451182 SCV001654808 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920963 SCV004730525 likely benign RPGRIP1-related disorder 2020-07-23 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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