ClinVar Miner

Submissions for variant NM_004530.6(MMP2):c.759C>T (p.Ser253=)

gnomAD frequency: 0.00108  dbSNP: rs148801200
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000287208 SCV000335685 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Invitae RCV000287208 SCV001107021 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118003 SCV001276251 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000287208 SCV004139387 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing MMP2: BP4, BP7

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