ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.78-3T>C

gnomAD frequency: 0.00096  dbSNP: rs77466627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557561 SCV000634457 benign Emery-Dreifuss muscular dystrophy 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905361 SCV004723085 benign SUN1-related disorder 2019-06-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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