ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)

gnomAD frequency: 0.00007  dbSNP: rs772854423
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641314 SCV000762955 likely benign Nemaline myopathy 2 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000641314 SCV000896831 uncertain significance Nemaline myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000839706 SCV000981610 likely benign not provided 2018-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002544663 SCV003527100 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.15142C>A (p.Q5048K) alteration is located in exon 105 (coding exon 103) of the NEB gene. This alteration results from a C to A substitution at nucleotide position 15142, causing the glutamine (Q) at amino acid position 5048 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000839706 SCV003811608 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing

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