ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.399G>C (p.Ser133=)

dbSNP: rs141584041
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 RCV001486023 SCV001690472 likely benign Argininosuccinate lyase deficiency 2021-05-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001486023 SCV002076003 likely benign Argininosuccinate lyase deficiency 2021-09-02 no assertion criteria provided clinical testing

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