ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.1245+10C>T

dbSNP: rs531427504
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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 RCV000979758 SCV001127703 benign Lysinuric protein intolerance 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000979758 SCV002800286 likely benign Lysinuric protein intolerance 2021-07-23 criteria provided, single submitter clinical testing

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