ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2862+3A>G

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Total submissions: 2
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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 RCV003140495 SCV003807252 uncertain significance Stickler syndrome type 2 2023-02-10 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818290 SCV005068565 uncertain significance Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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