ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20341C>T (p.Arg6781Cys)

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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 RCV002716554 SCV003005594 likely benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002745515 SCV003596134 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.15238C>T (p.R5080C) alteration is located in exon 106 (coding exon 104) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 15238, causing the arginine (R) at amino acid position 5080 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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