ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)

dbSNP: rs2128152615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536006 SCV001752684 likely pathogenic Polycystic kidney disease 4 2021-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001536006 SCV004204814 likely pathogenic Polycystic kidney disease 4 2021-12-30 criteria provided, single submitter clinical testing

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