ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.1397G>A (p.Arg466Lys)

gnomAD frequency: 0.00379  dbSNP: rs142328958
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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 RCV000825687 SCV000967116 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Arg487Lys in exon 14 of FAM65B: This variant is not expected to have clinical significance because it has been identified in 1.55% (152/9800) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs142328958).
Labcorp Genetics (formerly Invitae), Labcorp RCV000884599 SCV001027990 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000884599 SCV001861117 benign not provided 2018-11-19 criteria provided, single submitter clinical testing

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