ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.1645C>G (p.Pro549Ala) (rs42524)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244604 SCV000302007 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269609 SCV000470591 benign Ehlers-Danlos syndrome, procollagen proteinase deficient 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323983 SCV000470592 benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000244604 SCV000516229 benign not specified 2016-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000244604 SCV000538714 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Athena Diagnostics Inc RCV000244604 SCV000612915 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Mendelics RCV000987925 SCV001137419 benign Ehlers-Danlos syndrome, classic type 2019-05-28 criteria provided, single submitter clinical testing

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