ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.655+8G>A

gnomAD frequency: 0.00019  dbSNP: rs200203985
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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 RCV000873339 SCV001015318 likely benign Argininosuccinate lyase deficiency 2024-08-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873339 SCV001460129 uncertain significance Argininosuccinate lyase deficiency 2020-03-17 no assertion criteria provided clinical testing

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