ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys)

gnomAD frequency: 0.00004  dbSNP: rs201489289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003891287 SCV001070669 likely benign Ehlers-Danlos syndrome progeroid type 2023-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001585869 SCV001813860 uncertain significance not provided 2021-03-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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