ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.-1G>A

gnomAD frequency: 0.00328  dbSNP: rs143841175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991517 SCV001143007 benign not provided 2019-06-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148455 SCV001309354 benign Non-ketotic hyperglycinemia 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV001148455 SCV002081738 likely benign Non-ketotic hyperglycinemia 2019-10-22 no assertion criteria provided clinical testing

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