ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2295C>T (p.Pro765=)

gnomAD frequency: 0.00003  dbSNP: rs1040102521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991916 SCV001143774 likely benign not provided 2019-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549771 SCV003512497 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2024-02-16 criteria provided, single submitter clinical testing

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