ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9342G>A (p.Leu3114=)

gnomAD frequency: 0.00001  dbSNP: rs1158802718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481175 SCV001685512 likely benign Nemaline myopathy 2 2020-04-14 criteria provided, single submitter clinical testing

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