ClinVar Miner

Submissions for variant NM_032525.3(TUBB6):c.57+29C>A

gnomAD frequency: 0.66961  dbSNP: rs8086993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245207 SCV002514442 benign Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710432 SCV005251153 benign not provided criteria provided, single submitter not provided

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