ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.399G>T (p.Gln133His) (rs140148380)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755582 SCV000604385 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617037 SCV000319429 likely benign Cardiovascular phenotype 2018-02-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
CSER_CC_NCGL; University of Washington Medical Center RCV000590924 SCV000700124 likely benign Familial thoracic aortic aneurysm 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of familial thoracic aortic aneurysm. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000427577 SCV000701929 likely benign not specified 2016-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000427577 SCV000536063 likely benign not specified 2017-07-24 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 RCV000252247 SCV000440346 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460343 SCV000560694 benign Aortic aneurysm, familial thoracic 7 2018-01-02 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000427577 SCV000740627 likely benign not specified 2017-06-13 criteria provided, single submitter clinical testing

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