ClinVar Miner

Submissions for variant NM_014268.4(MAPRE2):c.367G>A (p.Ala123Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283774 SCV002572849 uncertain significance Skin creases, congenital symmetric circumferential, 2 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Missense changes are a common disease-causing mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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