ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)

dbSNP: rs1553537512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673954 SCV000799215 likely pathogenic Nemaline myopathy 2 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673954 SCV001400229 pathogenic Nemaline myopathy 2 2023-04-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557774). This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg8221Asnfs*31) 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).
Baylor Genetics RCV003472163 SCV004200338 likely pathogenic Arthrogryposis multiplex congenita 6 2023-03-06 criteria provided, single submitter clinical testing

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