ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn)

gnomAD frequency: 0.00153  dbSNP: rs199690569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333897 SCV001526595 uncertain significance Primary ciliary dyskinesia 5 2022-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243512 SCV005891261 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing HYDIN: BP4

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