ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.231-4C>A

gnomAD frequency: 0.00002  dbSNP: rs774628905
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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 RCV001489605 SCV001694150 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476795 SCV002797326 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-05-09 criteria provided, single submitter clinical testing

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