ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.684G>A (p.Thr228=)

gnomAD frequency: 0.00017  dbSNP: rs148328575
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002174325 SCV002473530 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494507 SCV002801099 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-02-02 criteria provided, single submitter clinical testing

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