ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.183C>T (p.Asp61=)

gnomAD frequency: 0.00282  dbSNP: rs73374672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704464 SCV000530533 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000541521 SCV000631868 benign Argininosuccinate lyase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000541521 SCV002075994 benign Argininosuccinate lyase deficiency 2019-12-02 no assertion criteria provided clinical testing

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