ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.2307T>C (p.Pro769=)

gnomAD frequency: 0.00001  dbSNP: rs201787522
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002111785 SCV002398728 likely benign Emery-Dreifuss muscular dystrophy 2024-06-13 criteria provided, single submitter clinical testing

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