ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)

gnomAD frequency: 0.00006  dbSNP: rs554984749
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518810 SCV000614179 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000641379 SCV000763020 benign Nemaline myopathy 2 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641379 SCV001455501 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535536 SCV001749510 not provided Nebulin-related early-onset distal myopathy no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-06-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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