ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)

gnomAD frequency: 0.00010  dbSNP: rs148497044
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316786 SCV000338548 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081137 SCV001000961 likely benign Autosomal recessive polycystic kidney disease 2024-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081137 SCV001455259 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003920096 SCV004732845 likely benign PKHD1-related disorder 2023-06-21 no assertion criteria provided 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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