ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003796618 SCV004583562 likely benign Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2023-05-24 criteria provided, single submitter clinical testing

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