ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)

gnomAD frequency: 0.00455  dbSNP: rs142820961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698348 SCV000533522 benign not provided 2020-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000880818 SCV001023940 benign Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902613 SCV004737226 benign B3GALT6-related disorder 2019-08-03 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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