ClinVar Miner

Submissions for variant NM_006901.4(MYO9A):c.6656G>A (p.Arg2219His)

gnomAD frequency: 0.00001  dbSNP: rs780540584
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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 RCV001292593 SCV001481168 uncertain significance Bronchiectasis 2021-02-22 no assertion criteria provided clinical testing Detected in a patient with CF-like phenotype compound heterozygous with NM_006901.3:c.2344C>A p.(Gln782Lys) Chr15:71938886G>T (hg38) Association is unclear.

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