ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.2286G>A (p.Val762=)

gnomAD frequency: 0.00001  dbSNP: rs780112130
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230609 SCV000290429 likely benign Primary ciliary dyskinesia 23 2024-02-24 criteria provided, single submitter clinical testing

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