ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4511del (p.Asp1504fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596053 SCV005091059 likely pathogenic Polycystic kidney disease, adult type 2024-02-02 criteria provided, single submitter clinical testing PVS1, PM2 - The variant is expected to result in an absent or disrupted protein product. Low frequency in gnomAD population databases.

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