ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.741G>A (p.Ser247=)

dbSNP: rs371927473
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872586 SCV001014421 likely benign Argininosuccinate lyase deficiency 2023-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872586 SCV002076031 likely benign Argininosuccinate lyase deficiency 2020-10-29 no assertion criteria provided clinical testing

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