ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del)

dbSNP: rs1391744174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992601 SCV001145005 uncertain significance not provided 2019-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505505 SCV002803238 uncertain significance Polycystic kidney disease, adult type 2022-05-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002505505 SCV006056836 uncertain significance Polycystic kidney disease, adult type 2019-04-01 criteria provided, single submitter research

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