ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9195A>G (p.Thr3065=)

gnomAD frequency: 0.00001  dbSNP: rs749791220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477271 SCV004219854 likely benign not provided 2023-08-12 criteria provided, single submitter clinical testing
Invitae RCV003779186 SCV004571652 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-10 criteria provided, single submitter clinical testing

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