ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.909C>T (p.His303=)

gnomAD frequency: 0.00001  dbSNP: rs1313242175
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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 RCV001434436 SCV001637242 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733309 SCV005362490 likely benign RPGRIP1L-related disorder 2023-04-24 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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