ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)

gnomAD frequency: 0.00011  dbSNP: rs587780850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123623 SCV000166962 benign not specified 2013-07-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000725403 SCV000336710 uncertain significance not provided 2015-11-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000123623 SCV000612312 likely benign not specified 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV001088015 SCV000640309 likely benign Pyridoxine-dependent epilepsy 2024-01-28 criteria provided, single submitter clinical testing

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