ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.779-13_779-12del

dbSNP: rs5876252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224781 SCV000281527 benign not provided 2015-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828099 SCV002083388 likely benign Autosomal recessive polycystic kidney disease 2018-04-11 no assertion criteria provided clinical testing

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