ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.216C>T (p.Ile72=)

gnomAD frequency: 0.00001  dbSNP: rs1351463033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002116913 SCV002399193 likely benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-11-08 criteria provided, single submitter clinical testing

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