ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.711C>T (p.Asn237=)

gnomAD frequency: 0.00003  dbSNP: rs777163801
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447100 SCV001650160 likely benign Leukocyte adhesion deficiency type II 2023-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392714 SCV004130027 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SLC35C1: BP4, BP7

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