ClinVar Miner

Submissions for variant NM_002393.5(MDM4):c.1147T>C (p.Ser383Pro)

dbSNP: rs2102456822
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808243 SCV002058868 uncertain significance Bone marrow failure syndrome 6 2022-01-03 criteria provided, single submitter clinical testing The varaint is not observed in the gnomAD v2.1.1 dataset (PM2_M). A missense variant is a common mechanism associated with Bone marrow failure syndrome 6 (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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