ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg)

gnomAD frequency: 0.00001  dbSNP: rs1966513057
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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 RCV002486050 SCV002777459 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-05-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279155 SCV001466237 uncertain significance Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing

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