ClinVar Miner

Submissions for variant NM_001031679.3(MSRB3):c.180C>T (p.Thr60=)

gnomAD frequency: 0.00290  dbSNP: rs147698935
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Total submissions: 5
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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 RCV000151025 SCV000198750 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr60Thr in Exon 04 of MSRB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.0% (36/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs147698935).
Eurofins Ntd Llc (ga) RCV000151025 SCV000860276 likely benign not specified 2018-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886451 SCV001029958 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000886451 SCV001884105 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000886451 SCV005216087 likely benign not provided criteria provided, single submitter not provided

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