ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.597G>T (p.Leu199=)

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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 RCV003604437 SCV004427973 likely benign Argininosuccinate lyase deficiency 2023-01-18 criteria provided, single submitter clinical testing

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