ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)

gnomAD frequency: 0.00016  dbSNP: rs140241814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862119 SCV001002570 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507469 SCV002795702 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271327 SCV001452412 uncertain significance Familial aplasia of the vermis 2019-12-27 no assertion criteria provided clinical testing

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