ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.2676C>A (p.Gly892=) (rs143161140)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225955 SCV000283481 likely benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617737 SCV000738667 likely benign Cardiovascular phenotype 2017-07-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000999272 SCV001155822 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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