ClinVar Miner

Submissions for variant NM_004136.4(IREB2):c.1069G>T (p.Gly357Ter)

dbSNP: rs1566982116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000781946 SCV000996475 likely pathogenic Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 2019-08-22 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM4, PM1, PM3, PS3-moderate.
OMIM RCV000855550 SCV000920381 pathogenic NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA 2019-11-05 no assertion criteria provided literature only

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