ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12483C>T (p.Val4161=) (rs876657539)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217543 SCV000270596 likely benign not specified 2015-09-14 criteria provided, single submitter clinical testing p.Val4161Val in exon 82 of NEB: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. This variant resides within NEB exons 82-105 , which includes three repetitive blocks (of 8 exons each) that are nearly ident ical in sequence. Due to the sequence homology in this region, our method is una ble to determine which of these three blocks this variant is located in. However , since in all three repetitive blocks the impact of this variant is a silent am ino acid change, it is not expected to have clinical significance and is classif ied as likely benign.
Invitae RCV000534879 SCV000640527 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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