ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=)

gnomAD frequency: 0.00014  dbSNP: rs368427726
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725943 SCV000340710 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000725943 SCV000512011 likely benign not provided 2020-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079805 SCV000762809 likely benign Pyridoxine-dependent epilepsy 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725943 SCV004159282 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ALDH7A1: BP4, BP7

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