ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) (rs34376836)

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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 RCV000254378 SCV000315221 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000543583 SCV000657519 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000254378 SCV000713603 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly80Gly in exon 2 of SLC52A3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 5.50% (247/4494) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs34376836).

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