ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)

gnomAD frequency: 0.00056  dbSNP: rs142141929
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000274787 SCV000430677 uncertain significance Cystinuria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000274787 SCV001030215 likely benign Cystinuria 2024-10-21 criteria provided, single submitter clinical testing

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