ClinVar Miner

Submissions for variant NM_006901.4(MYO9A):c.2344C>A (p.Gln782Lys)

gnomAD frequency: 0.00004  dbSNP: rs539244075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001292594 SCV001481169 uncertain significance Bronchiectasis 2021-02-22 no assertion criteria provided clinical testing

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