ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.633G>A (p.Ser211=)

gnomAD frequency: 0.00006  dbSNP: rs921883036
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226232 SCV001398537 likely benign Walker-Warburg congenital muscular dystrophy 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484228 SCV002790513 uncertain significance 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 2021-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032565 SCV005028638 likely benign Cardiovascular phenotype 2023-12-07 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.
Natera, Inc. RCV001828806 SCV002088967 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-11-03 no assertion criteria provided clinical testing

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