ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=)

gnomAD frequency: 0.00001  dbSNP: rs1319482740
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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 RCV000911438 SCV001056503 likely benign not provided 2023-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505339 SCV002810697 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-09-07 criteria provided, single submitter clinical testing

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