ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) (rs115777661)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000348191 SCV000331422 benign not specified 2015-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000348191 SCV000714624 benign not specified 2017-09-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000279352 SCV000454802 likely benign Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318025 SCV000454803 likely benign Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375055 SCV000454804 likely benign Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292325 SCV000454805 likely benign Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349648 SCV000454806 likely benign Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550734 SCV000640465 benign Achondrogenesis, type IB; Atelosteogenesis type 2; Multiple epiphyseal dysplasia 4; Diastrophic dysplasia 2017-06-16 criteria provided, single submitter clinical testing

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