ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1578G>T (p.Leu526=)

gnomAD frequency: 0.00001  dbSNP: rs774068020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002174115 SCV002472566 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2024-10-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999668 SCV005622535 likely benign not specified 2024-11-08 criteria provided, single submitter clinical testing

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