ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)

gnomAD frequency: 0.00032  dbSNP: rs201345883
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478969 SCV000564688 likely benign not provided 2020-03-07 criteria provided, single submitter clinical testing
Invitae RCV001084762 SCV000772920 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-01-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001084762 SCV003829714 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-10-15 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000478969 SCV004228745 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 09-08-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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