ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20467-6_20467-4dup

dbSNP: rs10687343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000372219 SCV000416865 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001702427 SCV005187936 uncertain significance not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702427 SCV001929732 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727687 SCV001976241 benign not specified no assertion criteria provided clinical testing

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