ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5967C>T (p.Asn1989=)

gnomAD frequency: 0.00010  dbSNP: rs371151246
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 RCV000641426 SCV000763067 likely benign Nemaline myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001731834 SCV001983222 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing

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