ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile)

gnomAD frequency: 0.00002  dbSNP: rs749794881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291074 SCV000464048 uncertain significance Autosomal recessive polycystic kidney disease 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595683 SCV000706839 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480236 SCV000897290 uncertain significance Polycystic kidney disease 4 2022-05-04 criteria provided, single submitter clinical testing

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