ClinVar Miner

Submissions for variant NM_001159387.2(B4GALNT2):c.954+5G>A

gnomAD frequency: 0.07909  dbSNP: rs72835417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693245 SCV001907380 benign not provided 2020-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31367682)
Breakthrough Genomics, Breakthrough Genomics RCV001693245 SCV005249853 benign not provided criteria provided, single submitter not provided
OMIM RCV001794483 SCV002032160 pathogenic BLOOD GROUP, SID SYSTEM 2023-07-18 no assertion criteria provided literature only

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