ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.1136+3del (rs796262035)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000374131 SCV000430665 likely benign Cystinuria 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455732 SCV000540376 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 242/2178=11.1%
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000374131 SCV001156721 benign Cystinuria 2018-09-13 criteria provided, single submitter clinical testing
Invitae RCV000374131 SCV001723078 benign Cystinuria 2020-12-05 criteria provided, single submitter clinical testing

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