ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.960+8G>A

gnomAD frequency: 0.00003  dbSNP: rs531429598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001477754 SCV001682001 likely benign Isovaleryl-CoA dehydrogenase deficiency 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921010 SCV004728966 likely benign IVD-related condition 2019-05-03 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).

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