ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2377-20_2377-19insC

gnomAD frequency: 0.03507  dbSNP: rs201752617
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173533 SCV001336623 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001510459 SCV001717495 benign Charcot-Marie-Tooth disease type 4 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579812 SCV001808596 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579812 SCV001919565 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579812 SCV001966232 benign not specified no assertion criteria provided clinical testing

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