ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.280-7T>C

gnomAD frequency: 0.00001  dbSNP: rs750868020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001257269 SCV001433813 uncertain significance Global developmental delay; Short stature; Single transverse palmar crease; Facial asymmetry; Strabismus; Decreased body weight; Ventricular septal defect 2019-10-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3. This variant was detected in heterozygous state.
Invitae RCV002069366 SCV002408388 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738027 SCV004565051 likely benign not provided 2023-03-23 criteria provided, single submitter clinical testing

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