ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.541G>A (p.Val181Ile)

gnomAD frequency: 0.00012  dbSNP: rs199578024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001883521 SCV002141850 likely benign not provided 2023-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492688 SCV004235178 uncertain significance Glycosylphosphatidylinositol biosynthesis defect 15 2023-11-03 criteria provided, single submitter clinical testing

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