ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=)

dbSNP: rs149278617
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000676743 SCV000557341 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676743 SCV005238360 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676743 SCV000802544 likely benign not provided 2017-10-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003912398 SCV004743558 benign SLC25A12-related disorder 2020-03-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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