ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) (rs200737737)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617122 SCV000318872 uncertain significance Cardiovascular phenotype 2017-04-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000243879 SCV000395295 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001086354 SCV000641036 likely benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000243879 SCV000904567 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000533441 SCV001150823 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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