ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8303-65C>A

gnomAD frequency: 0.57777  dbSNP: rs7765455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001530477 SCV001745315 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001673128 SCV001889080 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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