ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.402T>C (p.Ile134=) (rs56323028)

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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 RCV000245790 SCV000613679 benign not specified 2017-08-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327487 SCV000376634 likely benign Distal hereditary motor neuronopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386485 SCV000376635 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475254 SCV000557867 benign Charcot-Marie-Tooth disease, type 2L 2017-12-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245790 SCV000312166 benign not specified criteria provided, single submitter clinical testing

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