ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.402C>T (p.Cys134=)

dbSNP: rs955606062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768091 SCV000898982 uncertain significance Leukocyte adhesion deficiency type II 2021-03-30 criteria provided, single submitter clinical testing SLC35C1 NM_018389.4 exon 1 p.Cys134Cys (c.402C>T): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768091 SCV001667807 likely benign Leukocyte adhesion deficiency type II 2023-09-08 criteria provided, single submitter clinical testing

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