ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.770G>T (p.Arg257Leu)

dbSNP: rs757808215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000238511 SCV002817173 uncertain significance Hypercholesterolemia, familial, 1 2022-08-29 reviewed by expert panel curation The NM_000527.5(LDLR):c.770G>T (p.Arg257Leu) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code PM2 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines ( The supporting evidence is as follows: PM2 - This variant was not identified in gnomAD (gnomAD v2.1.1).
LDLR-LOVD, British Heart Foundation RCV000238511 SCV000294965 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only

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