ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) (rs149427926)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000273670 SCV000340771 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
Invitae RCV000691952 SCV000819753 uncertain significance Autosomal recessive polycystic kidney disease 2018-04-24 criteria provided, single submitter clinical testing This sequence change affects codon 3800 of the PKHD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PKHD1 protein. This variant is present in population databases (rs149427926, ExAC 0.04%). This variant has not been reported in the literature in individuals with PKHD1-related disease. ClinVar contains an entry for this variant (Variation ID: 287103). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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