ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23014G>A (p.Glu7672Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002711022 SCV003001185 likely benign Nemaline myopathy 2 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004652027 SCV005146327 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.17911G>A (p.E5971K) alteration is located in exon 131 (coding exon 129) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 17911, causing the glutamic acid (E) at amino acid position 5971 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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