ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=)

gnomAD frequency: 0.00001  dbSNP: rs759035035
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001426565 SCV001629223 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-05-11 criteria provided, single submitter clinical testing

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