ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)

gnomAD frequency: 0.00089  dbSNP: rs145891813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285047 SCV000373350 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000907554 SCV001052264 likely benign not provided 2024-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907554 SCV001500970 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing SPTBN2: BP4
Athena Diagnostics RCV001660600 SCV001880364 benign not specified 2021-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000907554 SCV002004036 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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