ClinVar Miner

Submissions for variant NM_001372106.1(DNAH10):c.12132G>A (p.Ala4044=)

gnomAD frequency: 0.00148  dbSNP: rs373544049
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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 RCV000884010 SCV001027360 benign not provided 2017-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910436 SCV004725806 likely benign DNAH10-related disorder 2019-08-09 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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