ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln)

gnomAD frequency: 0.00001  dbSNP: rs369456343
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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 RCV000793978 SCV000933360 benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027465 SCV004980595 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.6968G>A (p.R2323Q) alteration is located in exon 53 (coding exon 51) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 6968, causing the arginine (R) at amino acid position 2323 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000793978 SCV001461126 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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