ClinVar Miner

Submissions for variant NM_003332.4(TYROBP):c.141del (p.Met48fs)

gnomAD frequency: 0.00001  dbSNP: rs386833840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049808 SCV000026334 pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 2002-10-08 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049808 SCV000082217 probable-pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
GeneReviews RCV000049808 SCV000223804 not provided Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 no assertion provided literature only

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