ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.981G>A (p.Leu327=)

dbSNP: rs1295630627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293516 SCV001482107 likely benign not specified 2021-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001505574 SCV001710481 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-06-19 criteria provided, single submitter clinical testing

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