ClinVar Miner

Submissions for variant NM_144992.5(VWA3B):c.3734G>A (p.Arg1245Lys)

gnomAD frequency: 0.96955  dbSNP: rs7587534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245221 SCV002514522 benign Spinocerebellar ataxia, autosomal recessive 22 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710434 SCV005245860 benign not provided criteria provided, single submitter not provided

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