ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.509C>G (p.Thr170Ser)

dbSNP: rs541360328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828359 SCV000970045 uncertain significance not provided 2024-12-10 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Reported previously as a variant of uncertain significance in a patient with suspected Charcot-Marie-Tooth disease; however, no further clinical or segregation information was provided (PMID: 32376792); This variant is associated with the following publications: (PMID: 32376792)
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173040 SCV001336115 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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