ClinVar Miner

Submissions for variant NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val)

dbSNP: rs2077918865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333824 SCV001526511 uncertain significance Intellectual disability, autosomal recessive 52 2018-04-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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