ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.789del (p.Ser264fs)

dbSNP: rs1963050712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001034617 SCV001167345 likely pathogenic Aneurysm-osteoarthritis syndrome no assertion criteria provided clinical testing ACMG criteria PVS1 and PM2

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