ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.404G>A (p.Trp135Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004701242 SCV005201013 pathogenic Hypomyelinating leukodystrophy 2 2024-05-09 criteria provided, single submitter clinical testing PVS1 was applied as it is a null variant in a gene with loss of function daises mechanism. The variant is absent in population databases thus, PM2 was applied. The phenotype is specific for a disease with single gene aetiology, thus PP4 was applied.

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