ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19053C>T (p.Asp6351=)

gnomAD frequency: 0.00001  dbSNP: rs1201126048
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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 RCV001485328 SCV001689760 likely benign Nemaline myopathy 2 2022-08-09 criteria provided, single submitter clinical testing

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