ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1995T>C (p.Ser665=)

gnomAD frequency: 0.00001  dbSNP: rs757311272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001447431 SCV001650496 likely benign Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 2023-05-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150431 SCV003837809 likely benign Cardiomyopathy 2021-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900536 SCV004709831 likely benign NEXN-related condition 2021-03-19 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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