ClinVar Miner

Submissions for variant NM_003676.4(DEGS1):c.110T>C (p.Met37Thr)

dbSNP: rs1388884067
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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 RCV000993673 SCV001146808 uncertain significance Leukodystrophy, hypomyelinating, 18 2019-09-25 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Leukodystrophy, hypomyelinating, 18, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3.
Fulgent Genetics, Fulgent Genetics RCV000993673 SCV005641810 likely pathogenic Leukodystrophy, hypomyelinating, 18 2024-03-25 criteria provided, single submitter clinical testing

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