ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu)

dbSNP: rs1553507345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583742 SCV000692237 likely pathogenic Aortic dissection 2015-09-18 no assertion criteria provided clinical testing

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