ClinVar Miner

Submissions for variant NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) (rs551460635)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000308096 SCV000393274 likely benign Nemaline Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559120 SCV000638776 likely benign Nemaline myopathy 6 2016-11-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249891 SCV000306574 likely benign not specified criteria provided, single submitter clinical testing

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