ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) (rs139486822)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246921 SCV000315231 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000554051 SCV000657537 benign Brown-Vialetto-Van Laere syndrome 1 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000246921 SCV000713605 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Phe3Phe in exon 2 of SLC52A3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.94% (566/60078) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs139486822).

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