ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10881C>A (p.Val3627=)

gnomAD frequency: 0.07706  dbSNP: rs11708581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455059 SCV000538812 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV001515948 SCV001724135 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001692100 SCV001907282 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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