ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1063-57G>C

dbSNP: rs1167406
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532814 SCV001748547 benign Argininosuccinate lyase deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001647368 SCV001856273 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647368 SCV005270187 benign not provided criteria provided, single submitter not provided

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