ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.246C>T (p.Leu82=)

gnomAD frequency: 0.00003  dbSNP: rs780420252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895353 SCV001039389 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541849 SCV004780012 likely benign RAPSN-related disorder 2019-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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