ClinVar Miner

Submissions for variant NM_001378328.1(CELSR1):c.8813C>A (p.Pro2938Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003437654 SCV004153271 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CELSR1: BS1, BS2
Ambry Genetics RCV004364585 SCV004925054 uncertain significance not specified 2022-05-26 criteria provided, single submitter clinical testing The c.8813C>A (p.P2938Q) alteration is located in exon 34 (coding exon 34) of the CELSR1 gene. This alteration results from a C to A substitution at nucleotide position 8813, causing the proline (P) at amino acid position 2938 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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