ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1572G>A (p.Pro524=)

gnomAD frequency: 0.00001  dbSNP: rs763994500
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075399 SCV002373338 likely benign Atypical glycine encephalopathy 2024-04-09 criteria provided, single submitter clinical testing

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