ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5614-7G>A (rs202120792)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000378075 SCV000395199 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625462 SCV000745470 likely benign Aortic aneurysm, familial thoracic 4 2015-07-22 criteria provided, single submitter clinical testing
Invitae RCV000625462 SCV000763264 benign Aortic aneurysm, familial thoracic 4 2017-12-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625462 SCV000745952 likely benign Aortic aneurysm, familial thoracic 4 2014-02-04 no assertion criteria provided clinical testing

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