ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17635-15dup (rs3214503)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000305873 SCV000416915 benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000986838 SCV001011975 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986838 SCV001135977 benign Nemaline myopathy 2 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000986838 SCV001440245 benign Nemaline myopathy 2 2019-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986838 SCV001453287 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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