ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) (rs759440817)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238374 SCV000295932 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238374 SCV000323006 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/200 non-FH alleles
Color RCV001192333 SCV001360365 uncertain significance Familial hypercholesterolemia 2020-04-06 criteria provided, single submitter clinical testing

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