ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508187 SCV001714169 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing
Medical Genetics,Spectrum Health RCV001290442 SCV001478449 likely pathogenic Autosomal recessive polycystic kidney disease no assertion criteria provided clinical testing Found in trans with a known pathogenic variant in a clinically affected individual.

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