ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.996_998delinsG (p.Lys333fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham RCV004701232 SCV005205817 pathogenic Familial hypercholesterolemia 2023-01-01 no assertion criteria provided clinical testing This is a novel mutation. Two separate families had the same mutation with Mutation Taster proving deleterious

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