ClinVar Miner

Submissions for variant NM_000038.6(APC):c.620G>A (p.Cys207Tyr)

dbSNP: rs1268298845
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500054 SCV000591042 likely benign Carcinoma of colon no assertion criteria provided clinical testing Two affecteds from Melyssa's family. But no polyps or classic FAP phenotype. The variant was present in mother who did not have the disorder. Strong basis to push to predicted benign but can't rule out pathogenicity with certainty. Update NVA and add new blurb to database.

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