ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)

dbSNP: rs745879566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499622 SCV001704387 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486051 SCV002801678 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279161 SCV001466243 uncertain significance Familial aplasia of the vermis 2020-08-13 no assertion criteria provided clinical testing

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