ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) (rs78676079)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755385 SCV000605143 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000169071 SCV000220238 likely benign Multiple epiphyseal dysplasia 4 2014-04-10 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176980 SCV000228780 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000176980 SCV000516523 benign not specified 2016-07-06 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.
GeneReviews RCV000055759 SCV000086699 non-pathogenic Diastrophic dysplasia 2013-07-18 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000401654 SCV000454807 likely benign Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000169071 SCV000454808 likely benign Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352511 SCV000454809 likely benign Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407142 SCV000454810 likely benign Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055759 SCV000454811 likely benign Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525040 SCV000640466 benign Achondrogenesis, type IB; Atelosteogenesis type 2; Multiple epiphyseal dysplasia 4; Diastrophic dysplasia 2017-07-10 criteria provided, single submitter clinical testing

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