ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)

dbSNP: rs373367366
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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) RCV000597237 SCV000702483 uncertain significance not provided 2017-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491181 SCV002791398 uncertain significance Polycystic kidney disease 4 2021-07-06 criteria provided, single submitter clinical testing
Invitae RCV002531000 SCV003466249 likely benign Autosomal recessive polycystic kidney disease 2023-12-30 criteria provided, single submitter clinical testing

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