ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1060+109T>G

gnomAD frequency: 0.03443  dbSNP: rs10401667
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004717642 SCV005312090 benign not provided criteria provided, single submitter not provided
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508914 SCV000606308 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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