ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2338G>A (p.Glu780Lys)

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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 RCV002576651 SCV002936554 likely benign Nemaline myopathy 2 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651983 SCV005146330 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.2338G>A (p.E780K) alteration is located in exon 25 (coding exon 23) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 2338, causing the glutamic acid (E) at amino acid position 780 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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