ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.500-20C>G

gnomAD frequency: 0.00049  dbSNP: rs375933584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107135 SCV002327126 benign Lysinuric protein intolerance 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002107135 SCV002794645 likely benign Lysinuric protein intolerance 2021-10-04 criteria provided, single submitter clinical testing

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