ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val)

gnomAD frequency: 0.00014  dbSNP: rs146175246
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002068663 SCV002382240 likely benign Atypical glycine encephalopathy 2024-12-02 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002068663 SCV005416335 uncertain significance Atypical glycine encephalopathy criteria provided, single submitter clinical testing PM2

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