ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1129C>T (p.Arg377Trp)

gnomAD frequency: 0.00001  dbSNP: rs199861592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289182 SCV001476831 uncertain significance not provided 2020-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001289182 SCV002569635 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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