ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) (rs1553508706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590393 SCV000695365 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000634730 SCV000756072 likely benign Ehlers-Danlos syndrome, type 4 2017-09-04 criteria provided, single submitter clinical testing

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