ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.518-10_518-9del

dbSNP: rs1554100459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592214 SCV000707983 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV003517236 SCV004284087 likely benign Pyridoxine-dependent epilepsy 2023-03-21 criteria provided, single submitter clinical testing

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