ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1694-32C>G

gnomAD frequency: 0.02096  dbSNP: rs12196276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251791 SCV000315776 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530443 SCV001745271 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001618476 SCV001842613 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828151 SCV002081067 benign Autosomal recessive polycystic kidney disease 2018-04-13 no assertion criteria provided clinical testing

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