ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.588del (p.Arg197fs)

dbSNP: rs533071750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719685 SCV005325050 likely pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 133 amino acids are replaced with 80 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 23664117)
OMIM RCV000054398 SCV000082875 pathogenic Ehlers-Danlos syndrome, spondylodysplastic type, 2 2013-06-06 no assertion criteria provided literature only

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