ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5556T>C (p.His1852=)

gnomAD frequency: 0.00001  dbSNP: rs549418638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869026 SCV001010418 likely benign Autosomal recessive polycystic kidney disease 2023-09-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255582 SCV001432078 likely benign not specified 2020-08-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000869026 SCV001459377 uncertain significance Autosomal recessive polycystic kidney disease 2019-07-10 no assertion criteria provided clinical testing

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