ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)

gnomAD frequency: 0.00508  dbSNP: rs148164067
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755348 SCV000604777 benign Polycystic kidney disease, adult type 2020-04-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000253222 SCV001476611 benign not specified 2020-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001573560 SCV001941236 benign not provided 2020-03-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17574468, 18640754, 22383692, 18837007, 22008521)
CeGaT Center for Human Genetics Tuebingen RCV001573560 SCV004142882 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PKD1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001573560 SCV005219002 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003891870 SCV000305742 benign PKD1-related disorder 2019-10-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000253222 SCV000592775 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573560 SCV001799613 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000253222 SCV001927662 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573560 SCV001976071 likely benign not provided no assertion criteria provided clinical testing

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