ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.252G>A (p.Ser84=)

gnomAD frequency: 0.00001  dbSNP: rs532895784
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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 RCV001173271 SCV001336354 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001501700 SCV001706517 likely benign Charcot-Marie-Tooth disease type 4 2023-01-16 criteria provided, single submitter clinical testing

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