ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)

gnomAD frequency: 0.00002  dbSNP: rs1303599332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729845 SCV000857537 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779069 SCV002015200 likely benign not specified 2021-10-06 criteria provided, single submitter clinical testing
Invitae RCV002067101 SCV002396357 likely benign Autosomal recessive polycystic kidney disease 2024-01-18 criteria provided, single submitter clinical testing

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