ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13428T>C (p.Asp4476=)

dbSNP: rs1578869264
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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 RCV000878395 SCV001021294 likely benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing

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