ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2109A>G (p.Lys703=)

dbSNP: rs2099554454
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001999732 SCV002234866 likely benign Nemaline myopathy 2 2023-08-14 criteria provided, single submitter clinical testing

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