ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)

gnomAD frequency: 0.00007  dbSNP: rs374609310
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242311 SCV000305682 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712584 SCV000843100 benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494720 SCV002796239 likely benign Polycystic kidney disease, adult type 2021-12-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000242311 SCV002034157 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000712584 SCV002036932 likely benign not provided no assertion criteria provided clinical testing

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