ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4095C>T (p.His1365=)

gnomAD frequency: 0.00011  dbSNP: rs374454281
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126947 SCV000170478 benign not specified 2014-06-02 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 RCV000232924 SCV000285790 likely benign Aortic aneurysm, familial thoracic 4 2024-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262576 SCV000395280 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777692 SCV000913625 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000777692 SCV001333988 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777692 SCV002630561 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003945134 SCV004760953 likely benign MYH11-related disorder 2021-04-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000777692 SCV004821254 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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