ClinVar Miner

Submissions for variant NM_199292.3(TH):c.1128G>T (p.Ala376=) (rs11826260)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518607 SCV000615802 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375542 SCV000369914 likely benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468678 SCV000563353 benign Dystonia 2017-11-28 criteria provided, single submitter clinical testing

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