ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.1622+3A>G

gnomAD frequency: 0.00196  dbSNP: rs146686863
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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 RCV002132460 SCV002409502 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002132460 SCV004159574 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing GPAA1: PM2, BP4
Revvity Omics, Revvity RCV003492735 SCV004235179 uncertain significance Glycosylphosphatidylinositol biosynthesis defect 15 2023-02-04 criteria provided, single submitter clinical testing

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