ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=)

gnomAD frequency: 0.00021  dbSNP: rs139760936
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914989 SCV001060184 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502759 SCV002813629 likely benign Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-12-16 criteria provided, single submitter clinical testing

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