ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.618_638del (p.Gly207_Ser213del)

dbSNP: rs886039830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256237 SCV000322905 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000256237 SCV000583710 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing

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