ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.786+8del

dbSNP: rs3216838
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544331 SCV001763350 benign Spinocerebellar ataxia 48 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544332 SCV001763351 benign Autosomal recessive spinocerebellar ataxia 16 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001685494 SCV001898073 benign not provided 2019-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001685494 SCV003342100 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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