ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.72dup (p.Leu25fs)

dbSNP: rs2151047224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics, Suma Genomics RCV001829269 SCV002096996 pathogenic Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5 criteria provided, single submitter clinical testing

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