ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)

gnomAD frequency: 0.00012  dbSNP: rs375774377
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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 RCV001518245 SCV001726903 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501804 SCV002809565 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541964 SCV004784721 likely benign RPGRIP1L-related disorder 2024-01-29 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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