ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.774+10C>T

gnomAD frequency: 0.00014  dbSNP: rs372657226
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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 RCV000935169 SCV001080910 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505392 SCV002808983 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-05-16 criteria provided, single submitter clinical testing

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