ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1098C>T (p.Pro366=)

gnomAD frequency: 0.00014  dbSNP: rs138511394
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414885 SCV001617030 likely benign Argininosuccinate lyase deficiency 2024-09-30 criteria provided, single submitter clinical testing

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