ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.-45G>T

dbSNP: rs77013649
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079421 SCV000111300 benign not specified 2012-12-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001169644 SCV001332389 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001169645 SCV001332390 likely benign Dilated cardiomyopathy 1X 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001538495 SCV001756152 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001169645 SCV001933488 benign Dilated cardiomyopathy 1X 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001169644 SCV001933489 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701495 SCV001933490 benign Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701589 SCV001933491 benign Autosomal recessive limb-girdle muscular dystrophy type 2M 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538495 SCV005224812 likely benign not provided criteria provided, single submitter not provided

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