ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1706-69G>T (rs7259278)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238236 SCV000295597 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238236 SCV000322970 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 3 hmz + 28 htz / 125 non-FH individuals

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