ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) (rs267601070)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410465 SCV000486843 likely pathogenic Autosomal recessive polycystic kidney disease 2016-08-23 criteria provided, single submitter clinical testing
Mendelics RCV000410465 SCV001137144 pathogenic Autosomal recessive polycystic kidney disease 2019-05-28 criteria provided, single submitter clinical testing

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