ClinVar Miner

Submissions for variant NM_144992.5(VWA3B):c.2843+36dup

dbSNP: rs113487988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245220 SCV002514521 benign Spinocerebellar ataxia, autosomal recessive 22 2021-12-05 criteria provided, single submitter clinical testing

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