ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1095C>T (p.Ser365=)

dbSNP: rs749559501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559203 SCV001781313 uncertain significance Argininosuccinate lyase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001559203 SCV002343393 likely benign Argininosuccinate lyase deficiency 2023-11-06 criteria provided, single submitter clinical testing

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