ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.249C>T (p.Tyr83=)

gnomAD frequency: 0.00245  dbSNP: rs137865691
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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 RCV000908457 SCV001053222 benign Leukocyte adhesion deficiency 3 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902842 SCV004719141 likely benign FERMT3-related disorder 2020-01-06 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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