ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.318C>T (p.His106=)

gnomAD frequency: 0.00001  dbSNP: rs574875506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938002 SCV001083797 likely benign Severe myoclonic epilepsy in infancy 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942945 SCV004773477 likely benign SNX27-related condition 2020-01-08 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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