ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2568G>A (p.Ser856=)

dbSNP: rs140055056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088208 SCV001006118 likely benign Charcot-Marie-Tooth disease type 4 2023-12-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000865187 SCV001143931 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427121 SCV002744454 likely benign Inborn genetic diseases 2020-03-26 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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