ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=)

gnomAD frequency: 0.00004  dbSNP: rs747038764
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392693 SCV001594341 likely benign Autosomal recessive polycystic kidney disease 2023-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488214 SCV002799107 likely benign Polycystic kidney disease 4 2021-07-19 criteria provided, single submitter clinical testing

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