ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.860+19A>G

gnomAD frequency: 0.73896  dbSNP: rs524998
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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 RCV001515774 SCV001723924 benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001676006 SCV001895074 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346591 SCV004050563 benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346592 SCV004050564 benign Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676006 SCV005279841 benign not provided criteria provided, single submitter not provided

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