ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.656-102T>C

gnomAD frequency: 0.76440  dbSNP: rs313828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834590 SCV000976361 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001532813 SCV001748546 benign Argininosuccinate lyase deficiency 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834590 SCV005270120 benign not provided criteria provided, single submitter not provided

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