ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)

gnomAD frequency: 0.00030  dbSNP: rs11860753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243965 SCV000312469 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000862133 SCV001002590 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500909 SCV002807753 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-11-24 criteria provided, single submitter clinical testing

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