ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.3203A>G (p.Gln1068Arg)

gnomAD frequency: 0.00009  dbSNP: rs371774042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768521 SCV001992294 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001768521 SCV005409736 uncertain significance not provided 2024-04-16 criteria provided, single submitter clinical testing BP4

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