ClinVar Miner

Submissions for variant NM_001408.3(CELSR2):c.4395G>T (p.Leu1465Phe)

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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 RCV004202683 SCV003705819 uncertain significance not specified 2021-12-06 criteria provided, single submitter clinical testing The c.4395G>T (p.L1465F) alteration is located in exon 6 (coding exon 6) of the CELSR2 gene. This alteration results from a G to T substitution at nucleotide position 4395, causing the leucine (L) at amino acid position 1465 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099013 SCV005820147 likely benign not provided 2024-10-08 criteria provided, single submitter clinical testing

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