ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=)

gnomAD frequency: 0.00004  dbSNP: rs748088574
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 RCV002079150 SCV002426154 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486920 SCV002802352 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-12-27 criteria provided, single submitter clinical testing

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