ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.363C>T (p.Asn121=)

gnomAD frequency: 0.00017  dbSNP: rs367604855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872894 SCV001014785 likely benign Non-ketotic hyperglycinemia 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938323 SCV004754053 likely benign AMT-related condition 2023-11-07 criteria provided, single submitter 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).
Natera, Inc. RCV000872894 SCV001460885 uncertain significance Non-ketotic hyperglycinemia 2020-01-24 no assertion criteria provided clinical testing

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