ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)

gnomAD frequency: 0.33333  dbSNP: rs774726264
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Total submissions: 8
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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 RCV000221608 SCV000270600 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 82, 90, and 98) are co-amplified and sequenced (each amplicon consists of 6 a lleles). This variant represents a nonhomologous position within the three repet itive blocks (c.13353C, c.14811T, and c.16269T). The variable alleles at this po sition are not expected to have clinical significance because these alleles do n ot alter an amino acid residue and are not located within the splice consensus s equence.
PreventionGenetics, part of Exact Sciences RCV000221608 SCV000307209 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001572967 SCV000519875 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001572967 SCV005255869 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001272860 SCV001455275 likely benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572967 SCV001798146 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572967 SCV001932981 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572967 SCV001969439 likely benign not provided no assertion criteria provided clinical testing

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