ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18156+17T>G

gnomAD frequency: 0.00006  dbSNP: rs200662106
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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 RCV002101157 SCV002395358 benign Nemaline myopathy 2 2025-01-13 criteria provided, single submitter clinical testing

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