ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.720C>T (p.Cys240=)

gnomAD frequency: 0.00006  dbSNP: rs367790253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615031 SCV000726516 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing
Invitae RCV000869254 SCV001010667 likely benign Charcot-Marie-Tooth disease type 4A 2024-01-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173325 SCV001336413 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002377312 SCV002668734 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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