ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3114T>C (p.His1038=)

gnomAD frequency: 0.00004  dbSNP: rs974267627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722556 SCV000714259 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Invitae RCV001860259 SCV002263072 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325142 SCV002607910 likely benign Cardiovascular phenotype 2022-09-05 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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