ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)

dbSNP: rs1970448329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421379 SCV001623903 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2019-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499905 SCV002811785 likely benign Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-05-16 criteria provided, single submitter clinical testing

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