ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.837G>C (p.Thr279=)

dbSNP: rs543255240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174210 SCV000225473 uncertain significance not provided 2015-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001432385 SCV001635155 likely benign Argininosuccinate lyase deficiency 2024-01-28 criteria provided, single submitter clinical testing

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