ClinVar Miner

Submissions for variant NM_183065.4(TMEM107):c.*617C>T

dbSNP: rs117735243
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626026 SCV000746638 uncertain significance Leukoencephalopathy with calcifications and cysts 2018-03-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815353 SCV002063570 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SNORD118: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV001815353 SCV002408300 benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine RCV000626026 SCV001364135 pathogenic Leukoencephalopathy with calcifications and cysts 2020-04-06 no assertion criteria provided clinical testing

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