ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.288G>C (p.Leu96=)

dbSNP: rs2115695181
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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 RCV002145540 SCV002425198 likely benign Argininosuccinate lyase deficiency 2022-04-08 criteria provided, single submitter clinical testing

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