ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)

gnomAD frequency: 0.00005  dbSNP: rs765184893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814165 SCV000954566 uncertain significance Nemaline myopathy 2 2022-09-01 criteria provided, single submitter clinical testing This variant, c.17376_17381del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the NEB protein (p.Met5792_Asp5794delinsIle). This variant is present in population databases (rs765184893, gnomAD 0.008%). 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: 657541). 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 RCV003132083 SCV003810259 uncertain significance not provided 2019-10-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000814165 SCV001455265 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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