ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4929C>T (p.Asp1643=)

gnomAD frequency: 0.00036  dbSNP: rs138423692
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233775 SCV000291203 likely benign Aortic aneurysm, familial thoracic 7 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001722266 SCV000534535 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338760 SCV002642092 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-02-11 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV002338760 SCV003838215 benign Familial thoracic aortic aneurysm and aortic dissection 2021-09-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387817 SCV004100121 benign not specified 2023-09-25 criteria provided, single submitter clinical testing

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