ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2031+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140607 SCV003807535 likely pathogenic Ehlers-Danlos syndrome, classic type, 2 2022-05-19 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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