ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1094-4C>T

gnomAD frequency: 0.00001  dbSNP: rs977039138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428922 SCV000523085 likely benign not specified 2016-01-20 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.
Invitae RCV003631119 SCV004483298 likely benign Pyridoxine-dependent epilepsy 2023-10-05 criteria provided, single submitter clinical testing

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