ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)

gnomAD frequency: 0.00006  dbSNP: rs749869789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235839 SCV001711152 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2018-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000952592 SCV001811910 likely benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279661 SCV002565562 uncertain significance Ehlers-Danlos syndrome 2022-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029842 SCV005032240 likely benign Cardiovascular phenotype 2023-02-16 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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