ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)

gnomAD frequency: 0.00092  dbSNP: rs144663361
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712630 SCV000843147 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000712630 SCV002015317 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507248 SCV002806461 likely benign Polycystic kidney disease, adult type 2021-07-27 criteria provided, single submitter clinical testing

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