ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2402_2403insA (p.Gly802fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330256 SCV004037285 likely pathogenic Ehlers-Danlos syndrome, cardiac valvular type 2019-12-17 criteria provided, single submitter clinical testing

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