ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1244-18G>A

gnomAD frequency: 0.00004  dbSNP: rs923409583
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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 RCV002130716 SCV002445290 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494415 SCV002795303 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-04-20 criteria provided, single submitter clinical testing

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