ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11949G>T (p.Lys3983Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003132872 SCV003811499 uncertain significance not provided 2020-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003269548 SCV003977389 uncertain significance Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing The c.11220G>T (p.K3740N) alteration is located in exon 77 (coding exon 75) of the NEB gene. This alteration results from a G to T substitution at nucleotide position 11220, causing the lysine (K) at amino acid position 3740 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003629245 SCV004456679 likely benign Nemaline myopathy 2 2024-01-10 criteria provided, single submitter clinical testing

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