ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1037C>T (p.Thr346Met)

gnomAD frequency: 0.00613  dbSNP: rs34353044
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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 RCV000458830 SCV000562453 benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001637048 SCV001852694 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848837 SCV002104697 likely benign Hereditary spastic paraplegia 2021-11-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637048 SCV005226395 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925384 SCV004743783 benign GBA2-related disorder 2019-03-14 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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