ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) (rs34781844)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244034 SCV000317312 likely benign Cardiovascular phenotype 2015-05-15 criteria provided, single submitter clinical testing
Color RCV000771758 SCV000904416 likely benign Thoracic aortic aneurysm and aortic dissection 2018-03-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384960 SCV000425544 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000384960 SCV000554700 likely benign Ehlers-Danlos syndrome, type 4 2017-12-28 criteria provided, single submitter clinical testing

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