ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro)

dbSNP: rs1555444981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518022 SCV000614479 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398738 SCV006058206 uncertain significance Polycystic kidney disease, adult type 2024-11-14 criteria provided, single submitter clinical testing

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