ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) (rs548441536)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618083 SCV000738739 likely benign Cardiovascular phenotype 2017-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)

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