ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) (rs6054614)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537910 SCV000657524 benign Brown-Vialetto-Van Laere syndrome 1 2017-12-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825091 SCV000966338 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Asp174Gly in exon 2 of SLC52A3: This variant is not expected to have clinical significance because it has been identified in 3.72% (386/10376) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs6054614).

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