ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5502_5503delinsCG (p.Cys1835Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004797682 SCV005419038 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2024-10-17 criteria provided, single submitter clinical testing ACMG Criteria: PM1_STR,PM2_SUP,PM5_SUP

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