ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met)

gnomAD frequency: 0.00067  dbSNP: rs149065013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601144 SCV000726476 likely benign not specified 2018-01-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000733045 SCV000861061 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091710 SCV001057001 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531618 SCV003543459 likely benign Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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