ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057520771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733489 SCV000861565 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569418 SCV005057788 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2024-02-24 criteria provided, single submitter clinical testing

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