ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.1173+20C>T

gnomAD frequency: 0.00003  dbSNP: rs982302856
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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 RCV002129108 SCV002455337 likely benign not provided 2023-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494434 SCV002804926 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2022-04-27 criteria provided, single submitter clinical testing

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