ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys)

dbSNP: rs879254793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238320 SCV000295224 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
All of Us Research Program, National Institutes of Health RCV000238320 SCV005427588 uncertain significance Hypercholesterolemia, familial, 1 2023-06-27 criteria provided, single submitter clinical testing

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