ClinVar Miner

Submissions for variant NM_001031679.3(MSRB3):c.-67G>C

gnomAD frequency: 0.00013  dbSNP: rs368104588
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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 RCV000215142 SCV000271981 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Eurofins Ntd Llc (ga) RCV000726772 SCV000702935 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000726772 SCV001904452 benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Invitae RCV000726772 SCV002400205 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517565 SCV003605030 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.82G>C (p.G28R) alteration is located in exon 1 (coding exon 1) of the MSRB3 gene. This alteration results from a G to C substitution at nucleotide position 82, causing the glycine (G) at amino acid position 28 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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