ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.195C>T (p.His65=)

gnomAD frequency: 0.00010  dbSNP: rs143165913
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002097320 SCV002390405 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507948 SCV002805458 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002097320 SCV005259050 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003958636 SCV004773281 likely benign SLC6A19-related disorder 2019-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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