ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.887+8C>T

gnomAD frequency: 0.00034  dbSNP: rs375506845
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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 RCV002075090 SCV002378424 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507934 SCV002807529 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-09-01 criteria provided, single submitter clinical testing

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