ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7767C>T (p.His2589=)

gnomAD frequency: 0.00004  dbSNP: rs555499745
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 RCV000246000 SCV000305780 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503930 SCV002804115 likely benign Polycystic kidney disease, adult type 2022-03-14 criteria provided, single submitter clinical testing

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