ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13105C>T (p.Leu4369=)

dbSNP: rs147579763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215535 SCV000270598 likely benign not specified 2014-12-19 criteria provided, single submitter clinical testing NEB exons 82-105 are organized in three repetitive blocks of 8 exons each and be cause these blocks are nearly identical in sequence, homologous exons (e.g., exo ns 86, 94, and 102) are co-amplified and sequenced (each amplicon consists of 6 alleles). This variant represents a nonhomologous position within the three repe titive blocks (c.13105C, c.14563T, and c.16021T) and is categorized as "Likely B enign" as all three positions code for an Leucine (p.Leu4369, p.Leu4855, p.Leu53 41).
PreventionGenetics, part of Exact Sciences RCV000215535 SCV000307206 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001833184 SCV005813743 benign Nemaline myopathy 2 2025-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833184 SCV002077028 likely benign Nemaline myopathy 2 2021-02-26 no assertion criteria provided clinical testing

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