ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)

gnomAD frequency: 0.00139  dbSNP: rs35820023
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000321030 SCV000335076 benign not specified 2015-09-25 criteria provided, single submitter clinical testing
GeneDx RCV001527678 SCV000716542 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Invitae RCV002229743 SCV001019949 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001527678 SCV001157204 likely benign not provided 2019-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321951 SCV002607651 likely benign Cardiovascular phenotype 2020-03-02 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.
PreventionGenetics, part of Exact Sciences RCV003947859 SCV004765623 likely benign COL1A2-related disorder 2021-10-25 criteria provided, single submitter 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001527678 SCV001808584 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001527678 SCV001970224 likely benign not provided no assertion criteria provided clinical testing

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