ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys)

gnomAD frequency: 0.00001  dbSNP: rs1196015536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493489 SCV002786910 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279156 SCV001466238 uncertain significance Familial aplasia of the vermis 2020-09-25 no assertion criteria provided clinical testing

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