ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2070G>A (p.Thr690=)

gnomAD frequency: 0.00007  dbSNP: rs141049942
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000875506 SCV000727110 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170130 SCV001332671 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498821 SCV001703574 likely benign Aortic aneurysm, familial thoracic 7 2022-10-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000610075 SCV001748758 benign not specified 2021-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170130 SCV002726283 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-21 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.
Fulgent Genetics, Fulgent Genetics RCV002491284 SCV002797398 likely benign Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000875506 SCV001809023 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000875506 SCV001963988 likely benign not provided no assertion criteria provided clinical testing

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