ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.1356G>C (p.Ala452=)

dbSNP: rs34604585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961635 SCV001108686 benign not provided 2024-12-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804133 SCV002050250 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2023-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000961635 SCV005314850 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003926163 SCV004744614 benign GPI-related disorder 2020-01-21 no assertion criteria provided 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).

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