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

dbSNP: rs145166802

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000964176	SCV001111365	likely benign	not provided	2025-01-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	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
CeGaT Center for Human Genetics Tuebingen	RCV000964176	SCV002563879	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	RIPOR2: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000964176	SCV005223297	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003918285	SCV004739488	likely benign	RIPOR2-related disorder	2022-02-25	no assertion criteria provided	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).