ClinVar Miner

Submissions for variant NM_001159387.2(B4GALNT2):c.1216T>C (p.Cys406Arg)

gnomAD frequency: 0.12829  dbSNP: rs7224888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710402 SCV001938366 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 RCV001710402 SCV005249854 benign not provided criteria provided, single submitter not provided
OMIM RCV001794492 SCV002032159 affects BLOOD GROUP, SID SYSTEM 2021-12-11 no assertion criteria provided literature only

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