ClinVar Miner

Submissions for variant NM_003667.4(LGR5):c.2032T>C (p.Phe678Leu)

gnomAD frequency: 0.00001  dbSNP: rs758757228
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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 RCV004075034 SCV003532478 uncertain significance not specified 2021-08-16 criteria provided, single submitter clinical testing The c.2032T>C (p.F678L) alteration is located in exon 18 (coding exon 18) of the LGR5 gene. This alteration results from a T to C substitution at nucleotide position 2032, causing the phenylalanine (F) at amino acid position 678 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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