ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.396C>G (p.Thr132=)

dbSNP: rs1584267738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869779 SCV001011234 likely benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895307 SCV004709679 likely benign SEMA3E-related condition 2023-10-22 criteria provided, single submitter 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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