ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.486G>A (p.Thr162=)

gnomAD frequency: 0.00001  dbSNP: rs773481816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000245800 SCV000314267 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058325 SCV002438638 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-18 criteria provided, single submitter clinical testing

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