ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1169C>T (p.Ala390Val)

gnomAD frequency: 0.00021  dbSNP: rs201047656
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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 RCV002108050 SCV002394066 likely benign Argininosuccinate lyase deficiency 2025-01-17 criteria provided, single submitter clinical testing

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