ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Cavalleri Lab, Royal College of Surgeons in Ireland	RCV001095611	SCV001251247	pathogenic	Polycystic kidney disease, adult type	2020-02-05	criteria provided, single submitter	research	PVS1, PM2, PP4, PP5

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