ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)

gnomAD frequency: 0.00009  dbSNP: rs377663856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341209 SCV000373397 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992848 SCV001145412 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000992848 SCV001748307 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992848 SCV002358215 likely benign not provided 2023-01-22 criteria provided, single submitter clinical testing

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