ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.645C>T (p.Ile215=)

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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 RCV002612437 SCV003514235 likely benign Hyperprolinemia type 2 2023-02-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721119 SCV005330855 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ALDH4A1: BP4, BP7

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