ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2683+7C>T

gnomAD frequency: 0.00010  dbSNP: rs768922800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861338 SCV001001622 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507461 SCV002812930 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825707 SCV002087522 likely benign Familial aplasia of the vermis 2020-07-28 no assertion criteria provided clinical testing

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