ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln)

dbSNP: rs1135401728
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001027428 SCV001189982 likely pathogenic Congenital disorder of deglycosylation 2019-12-18 criteria provided, single submitter clinical testing

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