ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2557del (p.Val853fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003389132 SCV004101131 likely pathogenic Hypercholesterolemia, familial, 1 2023-11-02 no assertion criteria provided clinical testing
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham RCV003389132 SCV005205812 likely pathogenic Hypercholesterolemia, familial, 1 2023-01-01 no assertion criteria provided clinical testing Previously reported by SCV004101131

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