ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.30C>T (p.Ile10=)

gnomAD frequency: 0.00006  dbSNP: rs768838402
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422149 SCV001624691 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002070270 SCV002497124 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing

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