ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)

gnomAD frequency: 0.00001  dbSNP: rs773983252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061857 SCV001226616 likely benign Nemaline myopathy 2 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030438 SCV004980817 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.12140G>A (p.R4047Q) alteration is located in exon 82 (coding exon 80) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 12140, causing the arginine (R) at amino acid position 4047 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693552 SCV005187944 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001061857 SCV001455266 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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