ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8555-2A>G

dbSNP: rs1020621286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669137 SCV000793853 likely pathogenic Autosomal recessive polycystic kidney disease 2017-09-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000669137 SCV000928391 pathogenic Autosomal recessive polycystic kidney disease 2018-10-18 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP4, PP5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004568521 SCV005051931 likely pathogenic Polycystic kidney disease 4 2024-02-01 criteria provided, single submitter curation

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