ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.62C>A (p.Pro21His) (rs28497577)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222218 SCV000269312 benign not specified 2014-12-02 criteria provided, single submitter clinical testing c.62C>A (p.Pro21His) in exon 4 of MYLK: This variant is not expected to have cli nical significance because it does not alter an amino acid residue and is not lo cated within the splice consensus sequence. It has been identified in 9% (807/86 00) of European American chromosomes and 36% (1598/4406) of African American chr omosomes by the NHLBI Exome Sequencing Project ( /; dbSNP rs28497577).
PreventionGenetics,PreventionGenetics RCV000222218 SCV000315315 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353312 SCV000440354 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000222218 SCV000521286 benign not specified 2016-09-27 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755313 SCV000604378 benign Aortic aneurysm, familial thoracic 7 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620235 SCV000738294 benign Cardiovascular phenotype 2015-01-29 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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