ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.873C>T (p.Thr291=)

gnomAD frequency: 0.00002  dbSNP: rs769773725
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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) RCV000733844 SCV000861945 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
Invitae RCV001437834 SCV001640699 likely benign Autosomal recessive polycystic kidney disease 2023-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001437834 SCV002083385 likely benign Autosomal recessive polycystic kidney disease 2018-11-04 no assertion criteria provided clinical testing

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