ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17635-3del (rs3214503)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180425 SCV000232856 benign not specified 2014-09-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390473 SCV000416917 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000870517 SCV001012020 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000870517 SCV001453288 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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