ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1329C>T (p.Ile443=)

gnomAD frequency: 0.00010  dbSNP: rs193058770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534803 SCV000636264 benign Severe myoclonic epilepsy in infancy 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962497 SCV004777094 likely benign SNX27-related condition 2019-08-30 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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