ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1804+8C>T

gnomAD frequency: 0.91605  dbSNP: rs820355
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218807 SCV000269291 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 1804+8C>T in intron 13 of MYLK: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 26.5% (1160/4378) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs820355).
Preventiongenetics, part of Exact Sciences RCV000218807 SCV000315273 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000607430 SCV000440324 benign Aortic aneurysm, familial thoracic 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000218807 SCV000524300 benign not specified 2016-09-22 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586651 SCV000699791 benign not provided 2016-02-12 criteria provided, single submitter clinical testing
Invitae RCV000607430 SCV001728575 benign Aortic aneurysm, familial thoracic 7 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000607430 SCV002015836 benign Aortic aneurysm, familial thoracic 7 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001778800 SCV002015837 benign Megacystis, microcolon, hypoperistalsis syndrome 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607430 SCV000734240 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000218807 SCV001809184 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000218807 SCV001952827 benign not specified no assertion criteria provided clinical testing

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