ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs)

dbSNP: rs1596527579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001035 SCV001158148 pathogenic Polycystic kidney disease, adult type 2019-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001001035 SCV005638220 pathogenic Polycystic kidney disease, adult type 2024-02-27 criteria provided, single submitter clinical testing

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