ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1392C>T (p.His464=)

dbSNP: rs2154008612
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003795456 SCV004578752 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-01-30 criteria provided, single submitter clinical testing

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