ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) (rs145704441)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200067 SCV000251120 likely benign not specified 2017-04-21 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 RCV000285314 SCV000482668 likely benign Anemia, sideroblastic, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago RCV000200067 SCV000593087 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000958807 SCV001105683 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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