ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=)

gnomAD frequency: 0.00001  dbSNP: rs781002308
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 RCV003785992 SCV004567773 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-02-18 criteria provided, single submitter clinical testing

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