ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9135T>C (p.Leu3045=)

gnomAD frequency: 0.00003  dbSNP: rs1443551422
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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 RCV001467966 SCV001672000 likely benign Nemaline myopathy 2 2021-12-24 criteria provided, single submitter clinical testing

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