ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met)

gnomAD frequency: 0.00004  dbSNP: rs775362248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049479 SCV001213528 benign Nemaline myopathy 2 2024-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031542 SCV004978249 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.10276C>A (p.L3426M) alteration is located in exon 71 (coding exon 69) of the NEB gene. This alteration results from a C to A substitution at nucleotide position 10276, causing the leucine (L) at amino acid position 3426 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001049479 SCV001461936 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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