ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2816+23A>G

gnomAD frequency: 0.73006  dbSNP: rs532439
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001693914 SCV005318648 benign not provided criteria provided, single submitter not provided
Genome-Nilou Lab RCV001810260 SCV002056791 benign Autosomal recessive spinocerebellar ataxia 14 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810259 SCV002056790 benign Spinocerebellar ataxia type 5 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001693914 SCV001914807 benign not provided 2019-09-25 criteria provided, single submitter clinical testing

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