ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.138+169G>A

gnomAD frequency: 0.67443  dbSNP: rs4922980
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128768 SCV000979567 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001553821 SCV001774888 benign Gnathodiaphyseal dysplasia 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553822 SCV001774889 benign Miyoshi muscular dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553823 SCV001774890 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000128768 SCV005317823 benign not provided criteria provided, single submitter not provided
ANO5 @LOVD RCV000128768 SCV000172409 not provided not provided no assertion provided not provided

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