ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1706-69G>T

dbSNP: rs7259278
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238236 SCV000295597 benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238236 SCV000322970 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 3 hmz + 28 htz / 125 non-FH individuals
Genome-Nilou Lab RCV000238236 SCV001738020 benign Hypercholesterolemia, familial, 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717098 SCV005312106 benign not provided criteria provided, single submitter not provided

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