ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)

gnomAD frequency: 0.00067  dbSNP: rs148826890
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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 RCV000346859 SCV000373394 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000882266 SCV001025494 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289200 SCV001476851 benign not specified 2020-01-21 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001786359 SCV002028333 likely benign Spinocerebellar ataxia type 5 2021-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882266 SCV003916735 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing

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