ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11234del (p.Val3745fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795649 SCV005417144 likely pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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