ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) (rs147735490)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214367 SCV000717484 benign not specified 2017-07-10 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.
Illumina Clinical Services Laboratory,Illumina RCV000376784 SCV000440297 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463571 SCV000560657 benign Aortic aneurysm, familial thoracic 7 2017-08-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214367 SCV000269301 benign not specified 2015-09-16 criteria provided, single submitter clinical testing p.Asp1175Asp in exon 19 of MYLK: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1.1% (184/16510) of South Asian chromosomes including 3 homozygous individuals by the Exome Aggre gation Consortium (ExAC,; dbSNP rs147735490).
PreventionGenetics RCV000214367 SCV000315287 benign not specified criteria provided, single submitter clinical testing

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