ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.43T>C (p.Ser15Pro)

gnomAD frequency: 0.00001  dbSNP: rs2526781130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003487251 SCV004239520 uncertain significance Cardiomyopathy 2023-03-16 criteria provided, single submitter clinical testing

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