ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5752-9G>A

gnomAD frequency: 0.00074  dbSNP: rs184441390
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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) RCV000591074 SCV000704057 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV001089421 SCV001002050 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001089421 SCV001459375 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-08 no assertion criteria provided clinical testing

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