ClinVar Miner

Submissions for variant NM_000026.3(ADSL):c.357+7G>A (rs199993991)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726640 SCV000701897 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000123548 SCV000166887 benign not specified 2014-05-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000347351 SCV000438676 uncertain significance Adenylosuccinate lyase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000347351 SCV000755862 benign Adenylosuccinate lyase deficiency 2017-11-22 criteria provided, single submitter clinical testing

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