ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1337A>G (p.His446Arg) (rs72468699)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417379 SCV000235826 likely benign not specified 2017-11-13 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 RCV000243647 SCV000320017 likely benign Cardiovascular phenotype 2018-12-18 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Invitae RCV000869409 SCV001010832 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168118 SCV001330688 uncertain significance Dilated cardiomyopathy 3B 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.
Blueprint Genetics RCV000157165 SCV000206889 uncertain significance Left ventricular noncompaction cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157166 SCV000206890 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing

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