ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.744G>A (p.Leu248=)

dbSNP: rs76125290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173279 SCV001336362 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664727 SCV001880455 uncertain significance not provided 2020-10-29 criteria provided, single submitter clinical testing

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