ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=)

gnomAD frequency: 0.00073  dbSNP: rs140343487
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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 RCV000960849 SCV001107875 benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479109 SCV002803191 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-08-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000960849 SCV005304959 benign not provided criteria provided, single submitter not provided

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