ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) (rs139965967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524717 SCV000657526 likely benign Brown-Vialetto-Van Laere syndrome 1 2017-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615203 SCV000731918 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Thr182Thr in exon 2 of SLC52A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.16% (17/10354) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs139965967).

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