ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs)

dbSNP: rs727503977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723960 SCV000202897 pathogenic not provided 2014-04-23 criteria provided, single submitter clinical testing
OMIM RCV000153401 SCV000599602 pathogenic X-linked intellectual disability, Cantagrel type 2021-08-20 no assertion criteria provided literature only

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