ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002959709 SCV003672954 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.16756C>T (p.R5586W) alteration is located in exon 121 (coding exon 119) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 16756, causing the arginine (R) at amino acid position 5586 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135257 SCV003813553 uncertain significance not provided 2019-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003514603 SCV004280500 likely benign Nemaline myopathy 2 2023-10-16 criteria provided, single submitter clinical testing

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