ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.1063-8G>A

gnomAD frequency: 0.00004  dbSNP: rs548397162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928317 SCV001073927 likely benign Argininosuccinate lyase deficiency 2024-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000928317 SCV001460133 uncertain significance Argininosuccinate lyase deficiency 2020-02-13 no assertion criteria provided clinical testing

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