ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17036A>T (p.Asp5679Val)

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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 RCV002908530 SCV003249560 benign Nemaline myopathy 2 2024-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066097 SCV004978160 uncertain significance Inborn genetic diseases 2023-10-06 criteria provided, single submitter clinical testing The c.11933A>T (p.D3978V) alteration is located in exon 81 (coding exon 79) of the NEB gene. This alteration results from a A to T substitution at nucleotide position 11933, causing the aspartic acid (D) at amino acid position 3978 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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