ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1543+17dup

dbSNP: rs548627916
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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 RCV002220405 SCV002368238 benign Charcot-Marie-Tooth disease type 4 2023-11-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003600423 SCV004564133 likely benign Charcot-Marie-Tooth disease type 4H 2023-11-07 criteria provided, single submitter clinical testing

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