ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2250C>T (p.Asn750=)

gnomAD frequency: 0.00006  dbSNP: rs372783567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235832 SCV001097597 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445103 SCV002736466 likely benign Cardiovascular phenotype 2020-10-06 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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