ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)

gnomAD frequency: 0.00330  dbSNP: rs77351928
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082599 SCV000290691 benign Walker-Warburg congenital muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000243564 SCV000314261 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243564 SCV000337232 benign not specified 2015-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000711658 SCV000519104 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711658 SCV000842045 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711658 SCV000885464 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379025 SCV002673606 benign Cardiovascular phenotype 2019-03-26 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002494659 SCV002794925 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-08-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000243564 SCV001922995 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243564 SCV001971928 benign not specified no assertion criteria provided clinical testing

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