ClinVar Miner

Submissions for variant NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu)

gnomAD frequency: 0.15825  dbSNP: rs17261572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011539 SCV001722805 benign Polyagglutinable erythrocyte syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000011539 SCV002796163 likely benign Polyagglutinable erythrocyte syndrome 2021-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974818 SCV004799274 benign C1GALT1C1-related disorder 2019-10-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV004713169 SCV005278004 benign not provided criteria provided, single submitter not provided
OMIM RCV000011539 SCV000031771 pathogenic Polyagglutinable erythrocyte syndrome 2005-10-27 no assertion criteria provided literature only

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