ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)

gnomAD frequency: 0.00012  dbSNP: rs72466581
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000308930 SCV000337085 uncertain significance not provided 2015-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085652 SCV000625960 likely benign Duchenne muscular dystrophy 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620173 SCV000736904 likely benign Cardiovascular phenotype 2021-06-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000308930 SCV000984234 benign not provided 2020-10-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19937601)
Revvity Omics, Revvity RCV000308930 SCV003834733 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing

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