ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.717C>T (p.His239=)

gnomAD frequency: 0.00003  dbSNP: rs576729861
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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 RCV000875325 SCV001017634 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274411 SCV001458538 uncertain significance Congenital myasthenic syndrome 2020-01-24 no assertion criteria provided clinical testing

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