ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=)

gnomAD frequency: 0.00031  dbSNP: rs147146700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001435813 SCV001638641 likely benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV002462980 SCV002756558 likely benign not provided 2018-08-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV003346555 SCV004050616 likely benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346556 SCV004050617 likely benign Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing

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