ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.1246-24_1246-20del

gnomAD frequency: 0.00012  dbSNP: rs755372416
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002171334 SCV002424993 benign Lysinuric protein intolerance 2024-01-31 criteria provided, single submitter clinical testing

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