ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1143+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472682 SCV004201006 pathogenic Argininosuccinate lyase deficiency 2023-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003472682 SCV005667431 likely pathogenic Argininosuccinate lyase deficiency 2024-05-03 criteria provided, single submitter clinical testing

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