ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2490C>T (p.Asn830=) (rs72468679)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000223516 SCV000112406 benign not specified 2015-11-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223516 SCV000270125 likely benign not specified 2015-10-15 criteria provided, single submitter clinical testing p.Asn830Asn in exon 20 of DMD: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (40/47244) of European chromosomes including 16 hemizygotes by the Exome Aggregation Consortiu m (ExAC,; dbSNP rs72468679).
GeneDx RCV000223516 SCV000512808 benign not specified 2015-11-03 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.
Invitae RCV001080824 SCV000625872 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621463 SCV000736710 benign Cardiovascular phenotype 2017-04-06 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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000558620 SCV001155969 likely benign not provided 2017-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168043 SCV001330601 uncertain significance Dilated cardiomyopathy 3B 2017-04-28 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.

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