ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=)

dbSNP: rs7203729
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253111 SCV000305696 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000576352 SCV000604682 benign Polycystic kidney disease, adult type 2020-07-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576352 SCV000677398 benign Polycystic kidney disease, adult type 2017-05-23 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254259 SCV001430176 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV001706310 SCV001851996 benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706310 SCV005290654 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291885 SCV000592867 benign Polycystic kidney disease no assertion criteria provided clinical testing The 12630T>C, p.Pro4210Pro variant was identified in 20.11% of 21171 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000253111 SCV001951907 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253111 SCV001969449 benign not specified no assertion criteria provided clinical testing

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