ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=)

gnomAD frequency: 0.00006  dbSNP: rs544896068
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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 RCV000973689 SCV001121458 likely benign not provided 2017-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479140 SCV002801754 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-12-12 criteria provided, single submitter clinical testing

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