ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)

gnomAD frequency: 0.00477  dbSNP: rs114241603
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175064 SCV000226491 benign not specified 2014-12-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381666 SCV000373392 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886813 SCV001030340 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000175064 SCV001476853 benign not specified 2020-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000886813 SCV002567474 likely benign not provided 2022-02-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000886813 SCV005213029 likely benign not provided criteria provided, single submitter not provided

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