ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.846C>G (p.Ser282Arg)

gnomAD frequency: 0.00001  dbSNP: rs398123128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078016 SCV000109854 uncertain significance not provided 2013-01-22 criteria provided, single submitter clinical testing
Department of Human Genetics, Hannover Medical School RCV004595914 SCV005088719 likely pathogenic Argininosuccinate lyase deficiency 2024-07-30 criteria provided, single submitter clinical testing

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