ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) (rs552275776)

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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, Partners HealthCare Personalized Medicine RCV000214891 SCV000270126 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Pro857Ser in exon 20 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (92/10124) of South Asian chrom osomes by the Exome Aggregation Consortium (ExAC, ; dbSNP rs552275776).
Invitae RCV000465012 SCV000560872 benign Duchenne muscular dystrophy 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000214891 SCV000707111 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000214891 SCV000714969 benign not specified 2017-08-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000618914 SCV000736468 benign Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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