ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del)

dbSNP: rs2091618795
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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 RCV001288274 SCV001475260 uncertain significance not provided 2020-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012717 SCV005638805 likely pathogenic Polycystic kidney disease, adult type 2024-05-13 criteria provided, single submitter clinical testing

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