ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.708-5C>T

gnomAD frequency: 0.00008  dbSNP: rs371844893
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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) RCV000592255 SCV000709644 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV001428619 SCV001631320 likely benign Autosomal recessive polycystic kidney disease 2024-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900360 SCV004717206 likely benign PKHD1-related condition 2021-03-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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