ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)

dbSNP: rs1567207029
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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 RCV000712609 SCV000843126 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001281201 SCV001425176 likely pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV001281201 SCV005643057 likely pathogenic Polycystic kidney disease, adult type 2024-03-20 criteria provided, single submitter clinical testing

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