ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.2149-19T>C

gnomAD frequency: 0.00874  dbSNP: rs116897811
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002153319 SCV002452209 benign Emery-Dreifuss muscular dystrophy 2025-02-03 criteria provided, single submitter clinical testing

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