ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=)

gnomAD frequency: 0.00045  dbSNP: rs2575316
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251177 SCV000305721 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494722 SCV002796813 likely benign Polycystic kidney disease, adult type 2021-10-19 criteria provided, single submitter clinical testing

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