Submissions for variant NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)

dbSNP: rs771434359

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000992610	SCV001145017	uncertain significance	not provided	2019-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000992610	SCV002578535	uncertain significance	not provided	2023-12-06	criteria provided, single submitter	clinical testing	In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000992610	SCV001978483	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000992610	SCV001980489	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003943300	SCV004762698	likely benign	PKD1-related disorder	2022-12-22	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).