ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)

gnomAD frequency: 0.00092  dbSNP: rs79524027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696865 SCV000573216 likely benign not provided 2021-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765296 SCV000896551 uncertain significance COACH syndrome 1; Joubert syndrome 7; Meckel syndrome, type 5 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000862031 SCV001002461 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-16 criteria provided, single submitter clinical testing

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