ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.3044-12T>C

gnomAD frequency: 0.00627  dbSNP: rs115680381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605168 SCV000731879 benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.3107-12T>C in intron 22 of FAM65B: This variant is not expected to have clinic al significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.82% (76/9312) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs115680381).
GeneDx RCV001672894 SCV001888309 benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001672894 SCV002508214 benign not provided 2025-01-19 criteria provided, single submitter clinical testing

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