ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)

gnomAD frequency: 0.00003  dbSNP: rs767207985
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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 RCV000816074 SCV000956564 likely benign Nemaline myopathy 2 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028876 SCV004979069 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.17330G>A (p.R5777H) alteration is located in exon 126 (coding exon 124) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 17330, causing the arginine (R) at amino acid position 5777 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000816074 SCV002084034 uncertain significance Nemaline myopathy 2 2021-02-22 no assertion criteria provided clinical testing

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