ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2628C>T (p.Arg876=)

gnomAD frequency: 0.00002  dbSNP: rs571744275
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000244376 SCV000315279 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000244376 SCV000342179 likely benign not specified 2016-06-24 criteria provided, single submitter clinical testing
Invitae RCV000538502 SCV000650531 benign Aortic aneurysm, familial thoracic 7 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001722351 SCV000722625 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313989 SCV000739262 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000538502 SCV001311583 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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