ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) (rs1555738085)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000578009 SCV000679824 uncertain significance Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578092 SCV000679825 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577932 SCV000679826 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578007 SCV000679827 uncertain significance Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 2017-08-01 criteria provided, single submitter clinical testing

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