ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7447G>A (p.Val2483Ile)

dbSNP: rs1554088371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003163074 SCV003909489 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.7447G>A (p.V2483I) alteration is located in exon 16 (coding exon 15) of the APC gene. This alteration results from a G to A substitution at nucleotide position 7447, causing the valine (V) at amino acid position 2483 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3DMed Clinical Laboratory Inc RCV000677745 SCV000803901 uncertain significance Neoplasm of stomach 2017-04-21 no assertion criteria provided clinical testing

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