ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln)

gnomAD frequency: 0.00011  dbSNP: rs199861879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825234 SCV000966518 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Glu33Gln in exon 2 of SLC52A3: This variant is not expected to have clinical s ignificance because it has been identified in 0.61% (63/10320) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199861879).
Invitae RCV000877830 SCV001020624 likely benign Brown-Vialetto-van Laere syndrome 1 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001574251 SCV001801039 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381888 SCV002694009 likely benign Inborn genetic diseases 2020-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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