ClinVar Miner

Submissions for variant NM_001370.2(DNAH6):c.6502A>T (p.Met2168Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003427080 SCV004155104 benign not provided 2023-03-01 criteria provided, single submitter clinical testing DNAH6: PP2, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003980910 SCV004792873 likely benign DNAH6-related disorder 2019-10-30 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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