ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=)

gnomAD frequency: 0.00073  dbSNP: rs139103369
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893552 SCV001037495 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501485 SCV002807956 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-10-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987736 SCV004803245 likely benign not specified 2024-01-12 criteria provided, single submitter clinical testing

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