ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.8715C>T (p.Ile2905=)

gnomAD frequency: 0.00339  dbSNP: rs62060898
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132363 SCV002407294 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002132363 SCV004142035 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing DNAH9: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002132363 SCV005254876 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003895817 SCV004726901 likely benign DNAH9-related disorder 2019-06-12 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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