ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr)

gnomAD frequency: 0.00007  dbSNP: rs555901411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000503593 SCV000592813 uncertain significance not specified 2016-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481604 SCV002781450 uncertain significance Polycystic kidney disease, adult type 2022-02-10 criteria provided, single submitter clinical testing

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