ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2059-4G>A

gnomAD frequency: 0.00001  dbSNP: rs755212019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462970 SCV001666899 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2024-03-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704582 SCV005208242 likely benign not provided criteria provided, single submitter not provided

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