ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)

gnomAD frequency: 0.00010  dbSNP: rs139525851
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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 RCV000251086 SCV000310816 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876411 SCV001018979 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-01-25 criteria provided, single submitter clinical testing

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