ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1700-16G>T

dbSNP: rs1555604481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514508 SCV000609747 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766899 SCV004591898 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-12-26 criteria provided, single submitter clinical testing

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