ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13467T>C (p.Ile4489=)

dbSNP: rs2153923267
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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 RCV001396820 SCV001598558 likely benign Nemaline myopathy 2 2019-06-25 criteria provided, single submitter clinical testing

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