ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003398058 SCV004137122 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing IGHMBP2: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778379 SCV004606269 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-10-20 criteria provided, single submitter clinical testing

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