ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=)

dbSNP: rs1420938162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317516 SCV000850939 likely benign Inborn genetic diseases 2016-02-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003631153 SCV004521811 likely benign Pyridoxine-dependent epilepsy 2023-12-27 criteria provided, single submitter clinical testing

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