ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6809-8G>C

gnomAD frequency: 0.00004  dbSNP: rs1436176425
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001409238 SCV001611255 likely benign Autosomal recessive polycystic kidney disease 2022-12-21 criteria provided, single submitter clinical testing

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