ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1537-17A>G

gnomAD frequency: 0.00004  dbSNP: rs201703200
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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 RCV002180092 SCV002348564 benign Atypical glycine encephalopathy 2024-12-05 criteria provided, single submitter clinical testing

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