ClinVar Miner

Submissions for variant NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)

dbSNP: rs1280845604
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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 RCV000768573 SCV001146815 likely pathogenic Leukodystrophy, hypomyelinating, 18 2019-09-25 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Leukodystrophy, hypomyelinating, 18, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3, PS3, PM3-Supporting.
OMIM RCV000768573 SCV000899277 pathogenic Leukodystrophy, hypomyelinating, 18 2019-04-30 no assertion criteria provided literature only

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