ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.846C>T (p.Tyr282=)

dbSNP: rs549085827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259935 SCV000477630 uncertain significance Citrullinemia type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001434170 SCV001636973 likely benign Citrullinemia 2022-10-20 criteria provided, single submitter clinical testing

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