ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)

gnomAD frequency: 0.00003  dbSNP: rs751960243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235775 SCV001098871 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-07-08 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252272 SCV002523489 uncertain significance See cases 2020-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Ambry Genetics RCV002434317 SCV002747965 likely benign Cardiovascular phenotype 2022-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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