ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.305_307del (p.Lys102del)

dbSNP: rs1567219527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005010733 SCV005640667 likely pathogenic Polycystic kidney disease, adult type 2024-04-19 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722783 SCV000853914 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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