ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.405-8C>G

gnomAD frequency: 0.00002  dbSNP: rs748853895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578821 SCV000681160 uncertain significance not specified 2017-11-24 criteria provided, single submitter clinical testing The c.405-8 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 34/33534 (0.1014%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). In silico splice prediction models are uninformative for this variant's effect on the natural splice acceptor site for intron 4. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005208845 SCV001646508 likely benign not provided 2024-10-10 criteria provided, single submitter clinical testing

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