ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3867C>T (p.Tyr1289=)

gnomAD frequency: 0.00001  dbSNP: rs1010944283
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883261 SCV001026552 likely benign Nemaline myopathy 2 2024-01-22 criteria provided, single submitter clinical testing

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