ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2655C>T (p.Cys885=)

gnomAD frequency: 0.00061  dbSNP: rs142606648
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891866 SCV000305709 benign PKD1-related condition 2019-06-19 criteria provided, single submitter 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).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000247704 SCV000604751 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000247704 SCV001879425 benign not specified 2020-09-18 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795415 SCV002036271 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795415 SCV002038192 likely benign not provided no assertion criteria provided clinical testing

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