ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.397A>G (p.Met133Val)

gnomAD frequency: 0.00004  dbSNP: rs569778463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357115 SCV000476421 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264741 SCV000476422 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000634069 SCV000755347 likely benign Walker-Warburg congenital muscular dystrophy 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044591 SCV005679626 uncertain significance Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2024-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000634069 SCV002079569 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-04-14 no assertion criteria provided clinical testing

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