ClinVar Miner

Submissions for variant L76937.1:c.3711del

dbSNP: rs1563385391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Unit, University Hospital Principe de Asturias RCV002463571 SCV002605167 pathogenic Werner syndrome 2022-11-13 no assertion criteria provided clinical testing The patient has all clinical features of Werner Syndrome: short tall, gray hair and alopecia from her twenties, early cataracts, skin atrophy, sclerodermic changes, calcinosis cutis, torpid ulcers on lower limbs, diabetes mellitus, lipodystrophy and advanced osteoporosis. The patient has this variant on homocigosis. Her parents didn't know being consanguineous, but they were from the same litte village in Spain.

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