ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs)

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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 RCV003234846 SCV003932813 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 criteria provided, single submitter clinical testing

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