ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.3043+9T>A

gnomAD frequency: 0.12477  dbSNP: rs9379693
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Total submissions: 4
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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 RCV000611139 SCV000731880 benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.3106+9T>A in intron 22 of FAM65B: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 15.70% (255/1624 ) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs9379693).
GeneDx RCV000611139 SCV000732308 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001703211 SCV001934040 benign Autosomal recessive nonsyndromic hearing loss 104 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002233009 SCV002508154 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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