ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)

gnomAD frequency: 0.00004  dbSNP: rs760905651
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246141 SCV001419481 likely benign Nemaline myopathy 2 2023-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001246141 SCV001451492 uncertain significance Nemaline myopathy 2 2019-03-22 criteria provided, single submitter clinical testing The NEB c.23894C>A (p.Thr7965Asn) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Control data are unavailable for this variant, which is reported at a frequency of 0.000421 in the Other population of the Genome Aggregation Database. Based on the limited evidence, the p.Thr7965Asn variant is classified as a variant of uncertain significance for nemaline myopathy.
Ambry Genetics RCV002564101 SCV003746991 uncertain significance Inborn genetic diseases 2022-09-27 criteria provided, single submitter clinical testing The c.18686C>A (p.T6229N) alteration is located in exon 139 (coding exon 137) of the NEB gene. This alteration results from a C to A substitution at nucleotide position 18686, causing the threonine (T) at amino acid position 6229 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130227 SCV003812217 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001246141 SCV002083998 uncertain significance Nemaline myopathy 2 2021-03-29 no assertion criteria provided clinical testing

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