ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.239G>C (p.Gly80Ala)

gnomAD frequency: 0.00001  dbSNP: rs781838005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001563581 SCV001786554 likely benign Fabry disease 2024-06-27 criteria provided, single submitter clinical testing

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