ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) (rs145166802)

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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, Partners HealthCare Personalized Medicine RCV000825229 SCV000966511 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing The p.Thr94Lys variant in RIPOR2 is classified as likely benign because it has b een identified in 0.3% (403/126508) of European chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org). ACMG/AMP Criteria app lied: BS1.
Invitae RCV000964176 SCV001111365 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000964176 SCV001145273 benign not provided 2018-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000964176 SCV001941409 benign not provided 2019-09-13 criteria provided, single submitter clinical testing

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