ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.54G>C (p.Val18=)

dbSNP: rs1008378873
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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 RCV002194549 SCV002485419 likely benign Nemaline myopathy 2 2023-04-14 criteria provided, single submitter clinical testing

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