ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.588+13_588+16del

dbSNP: rs570821069
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247980 SCV000315314 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284812 SCV000440341 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000247980 SCV000569603 likely benign not specified 2018-03-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000247980 SCV001372278 benign not specified 2022-04-09 criteria provided, single submitter clinical testing
Invitae RCV002058386 SCV002355409 likely benign Aortic aneurysm, familial thoracic 7 2024-01-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000284812 SCV003837880 benign Familial thoracic aortic aneurysm and aortic dissection 2022-02-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001579425 SCV004563191 likely benign not provided 2023-04-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579425 SCV001807190 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000247980 SCV001928664 benign not specified no assertion criteria provided clinical testing

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