ClinVar Miner

Submissions for variant NM_001370.2(DNAH6):c.10723G>A (p.Gly3575Arg)

dbSNP: rs2470844224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990527 SCV004807252 likely pathogenic Ciliary dyskinesia, primary, 45 2024-03-26 criteria provided, single submitter clinical testing

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