ClinVar Miner

Submissions for variant NM_018965.4(TREM2):c.401A>G (p.Asp134Gly)

dbSNP: rs28939079
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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 RCV000005525 SCV001146842 uncertain significance Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 2019-10-17 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 , autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3-Supporting, PS3-Moderate.
OMIM RCV000005525 SCV000025707 pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 2002-09-01 no assertion criteria provided literature only

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