ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) (rs16992990)

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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 RCV000245038 SCV000315225 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000541843 SCV000657527 benign Brown-Vialetto-Van Laere syndrome 1 2017-08-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000245038 SCV000731909 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro200Pro in exon 3 of SLC52A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 8.23% (1024/12440) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://ex; dbSNP rs16992990).

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