ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1056G>C (p.Thr352=)

dbSNP: rs745476328
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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 RCV001501005 SCV001705809 likely benign Argininosuccinate lyase deficiency 2024-10-05 criteria provided, single submitter clinical testing

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