ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII RCV002510237 SCV002819141 likely pathogenic Ehlers-Danlos syndrome, type 4 2024-01-15 no assertion criteria provided clinical testing

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