ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.175C>T (p.Leu59=)

gnomAD frequency: 0.00003  dbSNP: rs963500907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000918734 SCV001786466 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858578 SCV002208621 likely benign Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2024-07-19 criteria provided, single submitter clinical testing

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