ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1081-8C>A

gnomAD frequency: 0.00039  dbSNP: rs145268448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224507 SCV000280905 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001399673 SCV001601464 likely benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2024-12-20 criteria provided, single submitter clinical testing

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