ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)

gnomAD frequency: 0.00017  dbSNP: rs139137879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552024 SCV000657511 likely benign Brown-Vialetto-van Laere syndrome 1 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001577531 SCV001804925 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377168 SCV002688337 likely benign Inborn genetic diseases 2019-07-11 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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