ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5032-13dup

dbSNP: rs148862132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696913 SCV000572218 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063804 SCV002418992 benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001696913 SCV002034010 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001696913 SCV002036592 likely benign not provided no assertion criteria provided clinical testing

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