ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=)

gnomAD frequency: 0.00064  dbSNP: rs139332952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966392 SCV001113709 likely benign Atypical glycine encephalopathy 2025-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815464 SCV002062802 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SLC6A9: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003936016 SCV004755126 likely benign SLC6A9-related disorder 2019-06-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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