ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)

gnomAD frequency: 0.00001  dbSNP: rs181022346
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001593179 SCV001815667 uncertain significance COACH syndrome 1; Joubert syndrome 7 2020-09-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497326 SCV002806244 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-08 criteria provided, single submitter clinical testing
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252814 SCV001163957 uncertain significance Microcephaly no assertion criteria provided research
Natera, Inc. RCV001279143 SCV001466225 uncertain significance Familial aplasia of the vermis 2020-07-30 no assertion criteria provided clinical testing

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