ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.459G>A (p.Pro153=) (rs149804782)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534935 SCV000644070 likely benign Charcot-Marie-Tooth disease, type 4A 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173314 SCV001336400 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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