ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.927G>T (p.Gly309=)

gnomAD frequency: 0.00185  dbSNP: rs151294789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721345 SCV000530516 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV000876074 SCV001018584 benign Argininosuccinate lyase deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902591 SCV004719797 likely benign ASL-related condition 2019-06-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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