ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)

gnomAD frequency: 0.00005  dbSNP: rs777609224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547445 SCV000640234 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000834573 SCV000976344 likely benign not provided 2019-08-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29695406)
Revvity Omics, Revvity RCV000834573 SCV003830522 uncertain significance not provided 2021-11-28 criteria provided, single submitter clinical testing

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