ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=)

gnomAD frequency: 0.00003  dbSNP: rs748530497
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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 RCV001488032 SCV001692538 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-02-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003399251 SCV004137119 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing IGHMBP2: BP4, BP7

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