ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)

gnomAD frequency: 0.00165  dbSNP: rs373913240
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730808 SCV000858572 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825225 SCV000966507 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Thr1066Ala in exon 23 of FAM65B: This variant is not expected to have clinical significance because it has been identified in 0.65% (14/2154) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs373913240).
Invitae RCV000730808 SCV001027151 likely benign not provided 2023-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928231 SCV004739960 likely benign RIPOR2-related condition 2019-09-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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