ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.111G>A (p.Ser37=)

gnomAD frequency: 0.00001  dbSNP: rs146825957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396624 SCV001598359 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2024-03-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707496 SCV005224358 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276399 SCV001462658 uncertain significance Congenital myasthenic syndrome 2020-01-24 no assertion criteria provided clinical testing

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