ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19012G>A (p.Ala6338Thr)

gnomAD frequency: 0.00001  dbSNP: rs759946299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223391 SCV002501699 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003089160 SCV003518728 likely benign Nemaline myopathy 2 2024-01-08 criteria provided, single submitter clinical testing

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