ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1170C>A (p.Asn390Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005254247 SCV005906278 uncertain significance Adams-Oliver syndrome 5 2023-10-20 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense changes are a common disease-causing mechanism. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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