ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.1215C>T (p.Ala405=)

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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 RCV003654792 SCV004537250 likely benign Emery-Dreifuss muscular dystrophy 2024-04-09 criteria provided, single submitter clinical testing

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