ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22138del (p.Glu7380fs)

dbSNP: rs1235589246
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674694 SCV000800080 likely pathogenic Nemaline myopathy 2 2018-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674694 SCV001588154 pathogenic Nemaline myopathy 2 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu7415Lysfs*2) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 558429). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784296 SCV002017926 likely pathogenic not provided 2023-01-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472174 SCV004200266 likely pathogenic Arthrogryposis multiplex congenita 6 2023-05-29 criteria provided, single submitter clinical testing

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