ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.1164+500C>T

gnomAD frequency: 0.00073  dbSNP: rs548721518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766096 SCV002007895 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001766096 SCV002508206 benign not provided 2023-10-03 criteria provided, single submitter clinical testing

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