ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.313-10C>A

dbSNP: rs567441242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327857 SCV001518949 likely benign Pyridoxine-dependent epilepsy 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001751637 SCV001995996 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing Located in a region that tolerates variation and lacks pathogenic variants; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genome-Nilou Lab RCV001327857 SCV004050232 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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