ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12993G>A (p.Gln4331=)

dbSNP: rs2153939382
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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 RCV002141362 SCV002464036 likely benign Nemaline myopathy 2 2023-02-20 criteria provided, single submitter clinical testing

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