ClinVar Miner

Submissions for variant NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)

gnomAD frequency: 0.00560  dbSNP: rs112223093
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655220 SCV000777150 benign Larsen-like syndrome, B3GAT3 type 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001573178 SCV001855725 benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573178 SCV005316705 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573178 SCV001798634 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580072 SCV001809567 benign not specified no assertion criteria provided clinical testing

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