ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.270T>C (p.Ala90=)

gnomAD frequency: 0.00039  dbSNP: rs143275316
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253583 SCV000301557 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001088635 SCV000755863 likely benign Adenylosuccinate lyase deficiency 2023-12-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731094 SCV000858870 uncertain significance not provided 2018-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000731094 SCV001862939 likely benign not provided 2020-10-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000253583 SCV004222720 likely benign not specified 2023-11-16 criteria provided, single submitter clinical testing

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