ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1018del (p.Met340fs)

dbSNP: rs1131691005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492284 SCV000581083 pathogenic Hereditary cancer-predisposing syndrome 2011-06-08 criteria provided, single submitter clinical testing This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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