ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.2581G>A (p.Val861Ile)

gnomAD frequency: 0.02466  dbSNP: rs61741706
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602108 SCV000717142 benign not specified 2017-10-23 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000602108 SCV000731883 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Val882Ile in exon 19 of FAM65B: This variant is not expected to have clinical significance because it has been identified in 7.48% (159/2126) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs61741706).
Athena Diagnostics RCV000712928 SCV000843484 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712928 SCV002508209 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927969 SCV004743545 benign RIPOR2-related disorder 2019-06-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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