ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1236C>T (p.His412=)

gnomAD frequency: 0.00004  dbSNP: rs201076863
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732907 SCV000860905 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV001086434 SCV001006303 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360859 SCV002662142 likely benign Cardiovascular phenotype 2020-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003892650 SCV004709291 likely benign FKRP-related condition 2021-03-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001830628 SCV002091343 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-08-12 no assertion criteria provided clinical testing

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