ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)

gnomAD frequency: 0.00002  dbSNP: rs144494809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377857 SCV000344609 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Invitae RCV001089067 SCV001040583 likely benign Citrin deficiency 2023-10-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277320 SCV001464262 likely benign Late-onset citrullinemia 2020-06-05 no assertion criteria provided clinical testing

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