ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9998+175T>C

gnomAD frequency: 0.30649  dbSNP: rs35999523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001530493 SCV001745343 benign Polycystic kidney disease 4 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001655811 SCV001871606 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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