ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu)

gnomAD frequency: 0.00025  dbSNP: rs374363627
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Total submissions: 4
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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 RCV002253163 SCV002523387 likely benign See cases 2019-12-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BS2, BP4
Fulgent Genetics, Fulgent Genetics RCV002481059 SCV002803456 likely benign Intellectual disability, autosomal dominant 45 2021-12-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002481059 SCV004237813 likely benign Intellectual disability, autosomal dominant 45 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612162 SCV005110604 likely benign Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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