ClinVar Miner

Submissions for variant NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val)

gnomAD frequency: 0.00100  dbSNP: rs36026860
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000059787 SCV001022795 likely benign not provided 2023-05-02 criteria provided, single submitter clinical testing
Mendelics RCV000987902 SCV001137395 uncertain significance Hypogonadotropic hypogonadism 16 with or without anosmia 2019-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964917 SCV004792376 likely benign SEMA3A-related condition 2021-08-03 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).
UniProtKB/Swiss-Prot RCV000059787 SCV000091357 not provided not provided no assertion provided not provided

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