ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7041G>A (p.Lys2347=)

gnomAD frequency: 0.00001  dbSNP: rs768624001
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 RCV001405208 SCV001607126 likely benign Nemaline myopathy 2 2023-02-01 criteria provided, single submitter clinical testing

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