ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) (rs146024732)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177982 SCV000229949 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617092 SCV000318104 likely benign Cardiovascular phenotype 2015-08-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000253552 SCV000395203 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350678 SCV000395204 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467094 SCV000556140 benign Aortic aneurysm, familial thoracic 4 2017-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000253552 SCV000902159 likely benign Thoracic aortic aneurysm and aortic dissection 2016-03-17 criteria provided, single submitter clinical testing
Color RCV000253552 SCV000911148 benign Thoracic aortic aneurysm and aortic dissection 2018-06-04 criteria provided, single submitter clinical testing

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