ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)

gnomAD frequency: 0.00116  dbSNP: rs145603001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078564 SCV001049694 benign Fucosidosis 2024-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675662 SCV000801363 uncertain significance not provided 2015-12-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953228 SCV004771818 benign FUCA1-related disorder 2019-12-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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