ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1005G>C (p.Val335=)

dbSNP: rs2115746700
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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 RCV001479878 SCV001684184 likely benign Argininosuccinate lyase deficiency 2021-08-31 criteria provided, single submitter clinical testing

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