ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=)

gnomAD frequency: 0.00008  dbSNP: rs779753312
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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 RCV001394900 SCV001596593 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000887531 SCV001803092 likely benign not provided 2018-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000887531 SCV001961294 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing IGHMBP2: BP4, BP7

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