ClinVar Miner

Submissions for variant NM_199292.3(TH):c.813G>A (p.Lys271=) (rs6357)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710271 SCV000677520 benign not provided 2017-04-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000287153 SCV000745018 benign Segawa syndrome, autosomal recessive 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000287153 SCV000745784 benign Segawa syndrome, autosomal recessive 2015-02-07 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287153 SCV000369918 benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000252592 SCV000317150 benign not specified criteria provided, single submitter clinical testing

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