ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg)

dbSNP: rs2133099564
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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 RCV001563977 SCV001787048 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563978 SCV001787049 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563979 SCV001787050 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2M 2021-07-14 criteria provided, single submitter clinical testing

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