ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)

dbSNP: rs1966218490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280690 SCV001467988 pathogenic not provided 2020-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504412 SCV002814558 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-12-01 criteria provided, single submitter clinical testing

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