ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21167A>G (p.Asp7056Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003100665 SCV003484212 likely benign Nemaline myopathy 2 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003084930 SCV003666884 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.16064A>G (p.D5355G) alteration is located in exon 114 (coding exon 112) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 16064, causing the aspartic acid (D) at amino acid position 5355 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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