ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1869T>C (p.Asn623=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004811682 SCV005431874 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing SLC6A9: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV005105226 SCV005815344 likely benign Atypical glycine encephalopathy 2024-09-02 criteria provided, single submitter clinical testing

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