ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8257_8260del (p.Tyr2753fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005400264 SCV006056830 likely pathogenic Polycystic kidney disease, adult type 2025-01-21 criteria provided, single submitter clinical testing

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