ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2419T>G (p.Phe807Val)

dbSNP: rs2499597927
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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 RCV004503851 SCV005006150 uncertain significance not specified 2023-12-20 criteria provided, single submitter clinical testing The c.2296T>G (p.F766V) alteration is located in exon 17 (coding exon 16) of the PIK3C2G gene. This alteration results from a T to G substitution at nucleotide position 2296, causing the phenylalanine (F) at amino acid position 766 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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