ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25543G>A (p.Gly8515Arg)

gnomAD frequency: 0.00001  dbSNP: rs776932788
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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 RCV001961976 SCV002132673 likely benign Nemaline myopathy 2 2024-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040336 SCV004979418 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.19975G>A (p.G6659R) alteration is located in exon 150 (coding exon 148) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 19975, causing the glycine (G) at amino acid position 6659 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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