ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)

dbSNP: rs780724946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666544 SCV000790850 uncertain significance Nemaline myopathy 2 2017-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666544 SCV001420479 uncertain significance Nemaline myopathy 2 2024-10-22 criteria provided, single submitter clinical testing This variant, c.24398_24400dup, results in the insertion of 1 amino acid(s) of the NEB protein (p.Ile8133dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780724946, 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: 551475). 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.
Revvity Omics, Revvity RCV003129983 SCV003811502 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000666544 SCV002083974 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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