ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.-3_-2del

dbSNP: rs570547911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676876 SCV002028684 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Alters the Kozak sequence, which plays a major role in the initiation of translation
Athena Diagnostics RCV000676876 SCV005620657 uncertain significance not provided 2024-09-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676876 SCV000802690 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938030 SCV004754483 likely benign SUCLA2-related disorder 2020-02-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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