ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5172-5C>T (rs574893374)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222686 SCV000269272 benign not specified 2015-06-04 criteria provided, single submitter clinical testing c.5193-5C>T in intron 37 of MYH11: This variant is not expected to have clinical significance because it has been identified in 1.1% (111/10012) of South Asian chromosomes including 2 homozygotes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs574893374).
Illumina Clinical Services Laboratory,Illumina RCV000641601 SCV000395232 likely benign Aortic aneurysm, familial thoracic 4 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.
GeneDx RCV000222686 SCV000729384 benign not specified 2017-07-06 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.
Invitae RCV000641601 SCV000763243 benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000301425 SCV000904475 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-09 criteria provided, single submitter clinical testing

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