ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290174 SCV002579286 likely pathogenic Stickler syndrome type 1 2021-10-15 criteria provided, single submitter clinical testing

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