ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.447-20C>T

gnomAD frequency: 0.00005  dbSNP: rs370515460
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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 RCV002083569 SCV002377003 likely benign Argininosuccinate lyase deficiency 2023-10-13 criteria provided, single submitter clinical testing

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