ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3629-32A>G

gnomAD frequency: 0.46280  dbSNP: rs2499480
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251583 SCV000315796 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530436 SCV001745264 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001636826 SCV001852179 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530436 SCV002029997 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835743 SCV002080992 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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