ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13626C>A (p.Ala4542=)

dbSNP: rs201225445
Minimum review status: Collection method:
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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 RCV002107927 SCV002393313 likely benign Nemaline myopathy 2 2023-10-18 criteria provided, single submitter clinical testing

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