ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.663G>A (p.Pro221=)

gnomAD frequency: 0.00012  dbSNP: rs111773874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081952 SCV000113887 uncertain significance not provided 2012-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082133 SCV001086604 likely benign Leukocyte adhesion deficiency type II 2024-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964940 SCV004779462 likely benign SLC35C1-related disorder 2023-05-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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