ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.537G>A (p.Pro179=)

gnomAD frequency: 0.00006  dbSNP: rs776483432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652181 SCV000774049 likely benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2024-09-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711279 SCV005259257 likely benign not provided criteria provided, single submitter not provided

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