ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)

dbSNP: rs749768205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409525 SCV000485786 likely pathogenic Autosomal recessive polycystic kidney disease 2016-02-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463790 SCV004204699 likely pathogenic Polycystic kidney disease 4 2023-03-25 criteria provided, single submitter clinical testing

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