ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)

dbSNP: rs200773352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865574 SCV001006565 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507487 SCV002811256 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-08-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825726 SCV002085740 likely benign Familial aplasia of the vermis 2020-01-17 no assertion criteria provided clinical testing

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