ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20946A>G (p.Lys6982=)

gnomAD frequency: 0.00030  dbSNP: rs371201870
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641437 SCV000763078 likely benign Nemaline myopathy 2 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711257 SCV005255849 likely benign not provided criteria provided, single submitter not provided

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