ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.501C>T (p.Ile167=)

gnomAD frequency: 0.00001  dbSNP: rs754269597
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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 RCV002217765 SCV002371554 likely benign Hyperprolinemia type 2 2021-07-26 criteria provided, single submitter clinical testing

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