ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2248-4A>G (rs370438099)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419937 SCV000519297 benign not specified 2016-02-15 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.
Invitae RCV000463027 SCV000554234 benign Epileptic encephalopathy, early infantile, 36 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716626 SCV000847468 benign History of neurodevelopmental disorder 2017-09-25 criteria provided, single submitter clinical testing Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;Sub-population frequency in support of benign classification (not ava blue, manual h-w);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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