ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1699-11T>C

gnomAD frequency: 0.00087  dbSNP: rs188035528
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574368 SCV001801177 likely benign not provided 2019-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072250 SCV002420328 likely benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346621 SCV004050597 likely benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346622 SCV004050598 likely benign Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931214 SCV004740454 likely benign AMPD2-related disorder 2022-06-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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