ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.154-9A>G

gnomAD frequency: 0.00001  dbSNP: rs762257005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879521 SCV001022557 likely benign Adenylosuccinate lyase deficiency 2023-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000879521 SCV002802546 likely benign Adenylosuccinate lyase deficiency 2022-04-18 criteria provided, single submitter clinical testing

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