ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser)

dbSNP: rs201637900
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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 RCV000237573 SCV000295836 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia RCV000237573 SCV001432603 pathogenic Hypercholesterolemia, familial, 1 2019-05-23 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV004791371 SCV005413322 likely pathogenic not provided 2024-08-29 criteria provided, single submitter clinical testing PP3, PP4, PM1, PM2, PS3_supporting, PS4_supporting

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