ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val)

dbSNP: rs1318213708
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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 RCV001329070 SCV001520382 uncertain significance Leukocyte adhesion deficiency type II 2019-01-17 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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