ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)

gnomAD frequency: 0.00021  dbSNP: rs189232206
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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 RCV000798595 SCV000938218 benign Nemaline myopathy 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001570111 SCV001794330 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027960 SCV004979317 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.14572G>A (p.V4858I) alteration is located in exon 100 (coding exon 98) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 14572, causing the valine (V) at amino acid position 4858 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000798595 SCV001461654 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000798595 SCV001749433 not provided Nemaline myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-09-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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