ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)

dbSNP: rs200864129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732041 SCV000859917 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV001078822 SCV001001316 likely benign Autosomal recessive polycystic kidney disease 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001078822 SCV001459193 likely benign Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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