ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3207+8G>T

dbSNP: rs866785621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598221 SCV000702678 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531008 SCV003499436 likely benign Osteogenesis imperfecta type I 2024-11-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737859 SCV005349431 likely benign COL1A1-related disorder 2019-07-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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