ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs)

dbSNP: rs2140314299
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814708 SCV002061473 likely pathogenic Aneurysm-osteoarthritis syndrome 2021-08-16 criteria provided, single submitter clinical testing PVS1, PM2

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