ClinVar Miner

Submissions for variant NM_199292.3(TH):c.334G>A (p.Val112Met) (rs6356)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710270 SCV000677519 benign not provided 2017-04-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000021078 SCV000745021 benign Segawa syndrome, autosomal recessive 2015-09-21 criteria provided, single submitter clinical testing
GeneReviews RCV000021078 SCV000041738 benign Segawa syndrome, autosomal recessive 2008-02-08 no assertion criteria provided curation Converted during submission to Benign.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000021078 SCV000745786 benign Segawa syndrome, autosomal recessive 2015-02-07 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021078 SCV000369930 benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241867 SCV000317145 benign not specified criteria provided, single submitter clinical testing

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