ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=)

dbSNP: rs1800248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002548231 SCV001091642 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000945606 SCV001873656 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003279169 SCV004006390 likely benign Cardiovascular phenotype 2023-06-05 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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