ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.119G>A (p.Arg40His)

gnomAD frequency: 0.00001  dbSNP: rs2054891509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563920 SCV001786979 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563921 SCV001786980 uncertain significance Muscular dystrophy-dystroglycanopathy type B5 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563922 SCV001786981 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-07-14 criteria provided, single submitter clinical testing

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