ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1170C>A (p.Ala390=)

gnomAD frequency: 0.00002  dbSNP: rs747116101
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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 RCV001427979 SCV001630670 likely benign Argininosuccinate lyase deficiency 2019-07-01 criteria provided, single submitter clinical testing

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