ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys)

gnomAD frequency: 0.00001  dbSNP: rs1963624413
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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 RCV002504397 SCV002813355 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278371 SCV001465380 uncertain significance Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing

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