ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3067C>G (p.Leu1023Val)

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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 RCV005322622 SCV005986843 uncertain significance Inborn genetic diseases 2024-12-17 criteria provided, single submitter clinical testing The c.3067C>G (p.L1023V) alteration is located in exon 9 (coding exon 9) of the CRB1 gene. This alteration results from a C to G substitution at nucleotide position 3067, causing the leucine (L) at amino acid position 1023 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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