ClinVar Miner

Submissions for variant NM_001354723.2(VHL):c.*84_*90del (rs1575932266)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer medicine,Gaomi People's Hospital RCV000855722 SCV000963100 pathogenic Von Hippel-Lindau syndrome; Cerebellar hemangioblastoma; Renal cell carcinoma, papillary, 1; Skin adenoma 2017-08-16 no assertion criteria provided clinical testing This variation (c.530_536delGACTGGA in VHL) is pathogenic, leading to hemangioblastoma in cerebellar tumors, metastasis of renal carcinoma and bilateral multiple nephridial cysts. This mutation may result in the alterations of the amino acid at position 177 (arginine) and the subsequent amino acids to form an abnormal VHL protein.

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