ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)

gnomAD frequency: 0.00021  dbSNP: rs376219874
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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 RCV000313099 SCV000373405 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992844 SCV001145407 benign not provided 2019-05-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000992844 SCV001500972 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SPTBN2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV000992844 SCV002157938 likely benign not provided 2023-03-06 criteria provided, single submitter clinical testing

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