ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.81C>A (p.Leu27=)

dbSNP: rs1334196295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569190 SCV001793217 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072192 SCV002367375 likely benign Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2021-11-22 criteria provided, single submitter clinical testing

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