ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.678G>A (p.Pro226=)

gnomAD frequency: 0.00002  dbSNP: rs746637292
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001467068 SCV001671085 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2024-03-08 criteria provided, single submitter clinical testing

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