ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)

gnomAD frequency: 0.13084  dbSNP: rs28362581
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001638090 SCV005259253 likely benign not provided criteria provided, single submitter not provided
Genome-Nilou Lab RCV003346550 SCV004050205 likely benign Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346549 SCV004050204 likely benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV001638090 SCV001850579 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518711 SCV001727456 benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420767 SCV001623118 likely benign not specified 2021-04-30 criteria provided, single submitter clinical testing

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