ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)

gnomAD frequency: 0.00260  dbSNP: rs146630359
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001000375 SCV000751440 benign Cystinuria 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000375 SCV001157132 benign Cystinuria 2023-11-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000375 SCV001301067 uncertain significance Cystinuria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV001706690 SCV004146015 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SLC3A1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706690 SCV001931482 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001706690 SCV001953071 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706690 SCV001966497 likely benign not provided no assertion criteria provided clinical testing

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