ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1173C>T (p.Ser391=)

gnomAD frequency: 0.00001  dbSNP: rs1436177232
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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 RCV001397300 SCV001599045 likely benign Argininosuccinate lyase deficiency 2023-12-13 criteria provided, single submitter clinical testing

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