ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)

dbSNP: rs373795139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067958 SCV001233043 likely benign Autosomal recessive polycystic kidney disease 2023-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482118 SCV002788198 uncertain significance Polycystic kidney disease 4 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001067958 SCV002078035 uncertain significance Autosomal recessive polycystic kidney disease 2020-02-26 no assertion criteria provided clinical testing

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