ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) (rs370985388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488186 SCV000574895 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV000811896 SCV000952186 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-09-20 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173335 SCV001336423 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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