ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2183G>A (p.Arg728His)

gnomAD frequency: 0.00004  dbSNP: rs370154845
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430859 SCV000536427 likely benign not provided 2022-11-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000648717 SCV000770538 likely benign Aortic aneurysm, familial thoracic 7 2024-01-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000430859 SCV001963437 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000430859 SCV001967594 uncertain significance not provided no assertion criteria provided clinical testing

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