ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)

gnomAD frequency: 0.00302  dbSNP: rs116415979
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873881 SCV001015969 benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001560056 SCV001782390 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003344107 SCV004050599 benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003344108 SCV004050600 benign Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001560056 SCV005259264 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001560056 SCV005433364 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing AMPD2: BP4, BP7, BS1

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