ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2664del (p.Gly890fs)

dbSNP: rs2128186439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580761 SCV001810568 likely pathogenic Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing

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