ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)

gnomAD frequency: 0.00003  dbSNP: rs371600800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795689 SCV000935159 likely benign Nemaline myopathy 2 2023-09-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133608 SCV003810154 uncertain significance not provided 2019-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307436 SCV004000029 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.19594C>T (p.R6532C) alteration is located in exon 148 (coding exon 146) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 19594, causing the arginine (R) at amino acid position 6532 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000795689 SCV001459157 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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