ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1591+7G>A

dbSNP: rs1562782419
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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) RCV000734501 SCV000862651 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536522 SCV003015147 likely benign Citrin deficiency 2022-08-22 criteria provided, single submitter clinical testing

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