ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1104C>T (p.Phe368=)

gnomAD frequency: 0.00016  dbSNP: rs149979593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073698 SCV002371454 likely benign Atypical glycine encephalopathy 2022-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003911319 SCV004723513 likely benign SLC6A9-related disorder 2019-07-31 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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