ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2305-8T>G

dbSNP: rs953486434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867250 SCV001008454 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294391 SCV002587138 uncertain significance Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279157 SCV001466239 uncertain significance Familial aplasia of the vermis 2020-10-21 no assertion criteria provided clinical testing

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