ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.750G>A (p.Ala250=)

gnomAD frequency: 0.00002  dbSNP: rs1200418637
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563179 SCV001786073 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Invitae RCV002072141 SCV002454810 likely benign Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2021-04-19 criteria provided, single submitter clinical testing

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