ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.982dup (p.Ala328fs)

dbSNP: rs1553638266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669862 SCV000794654 likely pathogenic Non-ketotic hyperglycinemia 2017-10-10 criteria provided, single submitter clinical testing
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000669862 SCV000891582 pathogenic Non-ketotic hyperglycinemia 2017-12-30 criteria provided, single submitter curation
Baylor Genetics RCV000669862 SCV004196918 pathogenic Non-ketotic hyperglycinemia 2022-09-24 criteria provided, single submitter clinical testing

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