ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)

gnomAD frequency: 0.00001  dbSNP: rs368598401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003490708 SCV004234383 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779241 SCV004654746 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2023-10-16 criteria provided, single submitter clinical testing

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