ClinVar Miner

Submissions for variant NM_004530.6(MMP2):c.1806C>T (p.Phe602=)

gnomAD frequency: 0.36635  dbSNP: rs14070
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331102 SCV000397963 benign Multicentric osteolysis nodulosis arthropathy spectrum 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510079 SCV001717018 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001510079 SCV001865735 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000331102 SCV002014245 benign Multicentric osteolysis nodulosis arthropathy spectrum 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001510079 SCV005292079 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529295 SCV001742503 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529295 SCV001952136 benign not specified no assertion criteria provided clinical testing

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