ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.567C>T (p.Pro189=)

gnomAD frequency: 0.00144  dbSNP: rs201454433
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254084 SCV000314269 benign not specified 2016-03-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725158 SCV000334550 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000725158 SCV000535732 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14647208)
Invitae RCV001085023 SCV000559444 benign Walker-Warburg congenital muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347967 SCV002652429 likely benign Cardiovascular phenotype 2019-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV000725158 SCV004139818 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing FKRP: BP4, BP7
Natera, Inc. RCV001828147 SCV002088962 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2019-10-24 no assertion criteria provided clinical testing

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