ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8798-19del

gnomAD frequency: 0.05493  dbSNP: rs112525785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511068 SCV001718249 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001615178 SCV001834378 benign not provided 2018-10-26 criteria provided, single submitter clinical testing

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