ClinVar Miner

Submissions for variant NM_018965.4(TREM2):c.269del (p.Gly90fs)

dbSNP: rs386834140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050134 SCV000082544 probable-pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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