ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)

gnomAD frequency: 0.00020  dbSNP: rs777778007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707160 SCV000836244 benign Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001560350 SCV001782740 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing

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