ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg)

gnomAD frequency: 0.00003  dbSNP: rs200290813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000304455 SCV000342930 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081338 SCV001092163 likely benign Renal carnitine transport defect 2024-10-01 criteria provided, single submitter clinical testing
Giacomini Lab, University of California, San Francisco RCV001081338 SCV002576598 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV000304455 SCV005411864 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing BP4
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001081338 SCV005417412 uncertain significance Renal carnitine transport defect criteria provided, single submitter clinical testing PM2_Supporting

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