ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4074C>T (p.Ala1358=)

gnomAD frequency: 0.00001  dbSNP: rs370519992
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331709 SCV000395281 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386203 SCV000395282 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000331709 SCV001360182 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263008 SCV002545753 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing MYH11: BP4
Invitae RCV003765846 SCV004611775 likely benign Aortic aneurysm, familial thoracic 4 2023-03-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000331709 SCV004821258 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-30 criteria provided, single submitter clinical testing

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