ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3098-13G>A

gnomAD frequency: 0.00022  dbSNP: rs371242359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555526 SCV001776964 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072076 SCV002411645 likely benign Autosomal recessive polycystic kidney disease 2024-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476859 SCV002799316 likely benign Polycystic kidney disease 4 2022-03-30 criteria provided, single submitter clinical testing

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