ClinVar Miner

Submissions for variant NM_001159387.2(B4GALNT2):c.1387C>T (p.Arg463Trp)

gnomAD frequency: 0.00910  dbSNP: rs61743617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000958725 SCV001105598 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000958725 SCV005249856 benign not provided criteria provided, single submitter not provided
OMIM RCV001796332 SCV002032162 affects BLOOD GROUP, SID SYSTEM 2021-12-11 no assertion criteria provided literature only

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