ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2087-18C>T

gnomAD frequency: 0.00002  dbSNP: rs776307936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827237 SCV000968866 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV002487871 SCV002804358 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002487871 SCV003489074 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-29 criteria provided, single submitter clinical testing

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