ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)

gnomAD frequency: 0.00035  dbSNP: rs145777568
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000903445 SCV001047912 likely benign Lysinuric protein intolerance 2024-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264071 SCV002542954 likely benign Autoinflammatory syndrome 2021-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000903445 SCV002803717 likely benign Lysinuric protein intolerance 2021-07-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968280 SCV004795030 likely benign SLC7A7-related disorder 2019-03-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000903445 SCV001459970 likely benign Lysinuric protein intolerance 2020-09-16 no assertion criteria provided clinical testing

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