ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8514G>A (p.Lys2838=)

gnomAD frequency: 0.00001  dbSNP: rs762688885
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001492600 SCV001697214 likely benign Nemaline myopathy 2 2023-06-28 criteria provided, single submitter clinical testing

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