ClinVar Miner

Submissions for variant NM_004530.6(MMP2):c.1499G>A (p.Arg500His)

dbSNP: rs28730814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912633 SCV001057745 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001116653 SCV001274767 benign Multicentric osteolysis nodulosis arthropathy spectrum 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003933004 SCV004752151 benign MMP2-related disorder 2019-02-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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