ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.91+180C>G

gnomAD frequency: 0.09427  dbSNP: rs186745159
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420766 SCV001623117 benign not specified 2021-04-30 criteria provided, single submitter clinical testing
GeneDx RCV001724318 SCV001950884 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346547 SCV004050207 benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346548 SCV004050208 benign Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001724318 SCV005279837 benign not provided criteria provided, single submitter not provided

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