ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.508G>A (p.Ala170Thr) (rs374476865)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249838 SCV000319237 uncertain significance Cardiovascular phenotype 2014-02-17 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (benign)
Invitae RCV000868023 SCV001009306 likely benign Ehlers-Danlos syndrome, type 4 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001189402 SCV001356687 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-06-26 criteria provided, single submitter clinical testing

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