ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.4050C>T (p.Pro1350=) (rs773853291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230664 SCV000283491 likely benign not provided 2016-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619326 SCV000738611 likely benign Cardiovascular phenotype 2016-05-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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