ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)

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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 RCV003142238 SCV003807658 uncertain significance Stickler syndrome type 2 2023-01-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated
Autoinflammatory diseases unit, CHU de Montpellier RCV003142238 SCV005381982 likely pathogenic Stickler syndrome type 2 2024-09-25 no assertion criteria provided clinical testing

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