ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])

dbSNP: rs377452683
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416114 SCV000493374 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing NEB: PM4, BP4
GeneDx RCV000416114 SCV000570606 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32222963)
Invitae RCV000528021 SCV000640589 uncertain significance Nemaline myopathy 2 2022-08-15 criteria provided, single submitter clinical testing This variant, c.169_183dup, results in the insertion of 5 amino acid(s) of the NEB protein (p.Leu57_Ala61dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770886969, gnomAD 0.1%). 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: 421412). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000528021 SCV001458312 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing
Istanbul Faculty of Medicine, Istanbul University RCV003766690 SCV004028466 uncertain significance Arthrogryposis multiplex congenita 6 2022-01-10 no assertion criteria provided clinical testing

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