ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1898+29G>T

gnomAD frequency: 0.02917  dbSNP: rs76084798
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250005 SCV000317287 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636844 SCV001849022 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259750 SCV002539209 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259752 SCV002539210 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259751 SCV002539211 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636844 SCV005223692 likely benign not provided criteria provided, single submitter not provided

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