ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.582C>T (p.Thr194=) (rs4628742)

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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 RCV000249072 SCV000613681 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249072 SCV000341041 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335243 SCV000376640 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461146 SCV000557865 benign Charcot-Marie-Tooth disease, type 2L 2017-07-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249072 SCV000312167 benign not specified criteria provided, single submitter clinical testing

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