ClinVar Miner

Submissions for variant NM_199292.3(TH):c.279G>A (p.Ser93=) (rs34510659)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713849 SCV000844487 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260953 SCV000369932 likely benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533859 SCV000626056 benign Dystonia 2017-06-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245352 SCV000317143 benign not specified criteria provided, single submitter clinical testing

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