ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)

dbSNP: rs1562851259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000785975 SCV000996403 uncertain significance Intellectual developmental disorder with severe speech and ambulation defects 2019-07-28 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Intellectual developmental disorder with severe speech and ambulation defects, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM6.
OMIM RCV000785975 SCV000924560 pathogenic Intellectual developmental disorder with severe speech and ambulation defects 2019-06-19 no assertion criteria provided literature only
CHU Sainte-Justine Research Center, University of Montreal RCV001028075 SCV001190858 likely pathogenic Autism; ACTL6B-related dominant intellectual disability 2019-03-01 no assertion criteria provided research

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