ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.481+12C>G

gnomAD frequency: 0.00034  dbSNP: rs370624507
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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 RCV002121411 SCV002448873 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500212 SCV002806641 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-09-17 criteria provided, single submitter clinical testing

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