ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=)

gnomAD frequency: 0.01389  dbSNP: rs115133359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974193 SCV001122008 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489425 SCV002799220 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974193 SCV005304970 benign not provided criteria provided, single submitter not provided

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