ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)

gnomAD frequency: 0.00006  dbSNP: rs201670044
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415965 SCV000493236 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Invitae RCV001272768 SCV001698544 likely benign Autosomal recessive polycystic kidney disease 2022-08-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950325 SCV004762258 likely benign PKHD1-related disorder 2022-10-30 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).
Natera, Inc. RCV001272768 SCV001455059 likely benign Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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