ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.231-15T>G

gnomAD frequency: 0.00002  dbSNP: rs762320051
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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 RCV002140993 SCV002466854 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017154 SCV005643964 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-04-05 criteria provided, single submitter clinical testing

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