ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2640C>T (p.Arg880=)

gnomAD frequency: 0.00433  dbSNP: rs114959904
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712392 SCV000531255 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086034 SCV000640764 benign Nemaline myopathy 2 2025-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712392 SCV000842870 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712392 SCV004011206 benign not provided 2024-06-01 criteria provided, single submitter clinical testing NEB: BP4, BP7, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000117752 SCV000152007 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001086034 SCV002077778 benign Nemaline myopathy 2 2019-12-05 no assertion criteria provided clinical testing

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