ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu)

gnomAD frequency: 0.00001  dbSNP: rs746096431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580762 SCV001810570 uncertain significance Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001580762 SCV002777543 uncertain significance Polycystic kidney disease 4 2022-03-30 criteria provided, single submitter clinical testing

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