ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1102-18C>G

gnomAD frequency: 0.00005  dbSNP: rs764157832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001613498 SCV001834216 benign not provided 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001866258 SCV002288199 likely benign Adenylosuccinate lyase deficiency 2025-01-05 criteria provided, single submitter clinical testing

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