ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=)

gnomAD frequency: 0.00034  dbSNP: rs141911612
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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 RCV002087147 SCV002321189 benign not provided 2023-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493997 SCV002800594 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-01-18 criteria provided, single submitter clinical testing

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