ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser)

dbSNP: rs1343750016
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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 RCV001563929 SCV001786988 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 RCV001563930 SCV001786989 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563931 SCV001786990 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2M 2021-07-14 criteria provided, single submitter clinical testing

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