ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)

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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 RCV003095753 SCV003485529 benign Nemaline myopathy 2 2024-03-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134652 SCV003810264 uncertain significance not provided 2020-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003269455 SCV003950010 uncertain significance Inborn genetic diseases 2023-04-06 criteria provided, single submitter clinical testing The c.6827G>T (p.W2276L) alteration is located in exon 52 (coding exon 50) of the NEB gene. This alteration results from a G to T substitution at nucleotide position 6827, causing the tryptophan (W) at amino acid position 2276 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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