ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6490+62A>G

gnomAD frequency: 0.14660  dbSNP: rs12196767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001530420 SCV001745241 likely benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001676025 SCV001894903 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676025 SCV005226137 likely benign not provided criteria provided, single submitter not provided

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