ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.567G>A (p.Ala189=)

gnomAD frequency: 0.00003  dbSNP: rs886043559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280235 SCV000340697 uncertain significance not provided 2016-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001490921 SCV001695496 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-11-10 criteria provided, single submitter clinical testing

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