ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2367+19C>T

gnomAD frequency: 0.00025  dbSNP: rs367769049
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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 RCV001413936 SCV001616058 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908604 SCV004722341 likely benign RPGRIP1-related disorder 2019-06-17 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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