ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)

gnomAD frequency: 0.00006  dbSNP: rs775553284
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176307 SCV000227938 uncertain significance not provided 2015-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000795154 SCV000934597 likely benign Nemaline myopathy 2 2024-12-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000176307 SCV003811674 uncertain significance not provided 2020-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362710 SCV004079793 uncertain significance Inborn genetic diseases 2023-06-30 criteria provided, single submitter clinical testing The c.2020G>A (p.V674I) alteration is located in exon 22 (coding exon 20) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 2020, causing the valine (V) at amino acid position 674 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000176307 SCV005187960 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000795154 SCV002077800 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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