ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly)

dbSNP: rs759791267
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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 RCV001563926 SCV001786985 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 RCV001563927 SCV001786986 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563928 SCV001786987 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2M 2021-07-14 criteria provided, single submitter clinical testing

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