ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11175-12T>C

dbSNP: rs1424171216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788882 SCV000928161 uncertain significance not provided 2019-01-11 criteria provided, single submitter clinical testing
Invitae RCV003611534 SCV004484710 likely benign Autosomal recessive polycystic kidney disease 2023-09-26 criteria provided, single submitter clinical testing

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