ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) (rs61732052)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250564 SCV000302312 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392115 SCV000454853 likely benign Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308349 SCV000454854 likely benign Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362985 SCV000454855 likely benign Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390928 SCV000454856 likely benign Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314081 SCV000454857 likely benign Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000250564 SCV000729135 benign not specified 2017-07-17 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.
Invitae RCV000974724 SCV001122573 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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