ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1923T>G (p.Val641=)

gnomAD frequency: 0.00001  dbSNP: rs958442410
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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 RCV002064707 SCV002423525 likely benign Hereditary spastic paraplegia 54 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975442 SCV004792470 likely benign DDHD2-related disorder 2019-02-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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