ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.825C>T (p.Tyr275=) (rs771253587)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242702 SCV000319965 likely benign Cardiovascular phenotype 2015-08-12 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (benign)
Invitae RCV000861629 SCV001002001 likely benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing

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