ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=)

gnomAD frequency: 0.00013  dbSNP: rs369859575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734283 SCV000515559 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734283 SCV000862413 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001080510 SCV001006046 likely benign Pyridoxine-dependent epilepsy 2023-11-20 criteria provided, single submitter clinical testing

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