ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.630G>A (p.Ser210=)

gnomAD frequency: 0.00001  dbSNP: rs200577486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002072456 SCV002323089 likely benign Leukocyte adhesion deficiency type II 2023-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968711 SCV004789389 likely benign SLC35C1-related disorder 2019-03-12 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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