ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1056G>A (p.Leu352=)

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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 RCV005066580 SCV005697647 likely benign Adenylosuccinate lyase deficiency 2024-06-26 criteria provided, single submitter clinical testing

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