ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.2314C>G (p.Leu772Val)

dbSNP: rs376152518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328766 SCV001519961 uncertain significance Focal segmental glomerulosclerosis 9 2019-01-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003263966 SCV003955986 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.2314C>G (p.L772V) alteration is located in exon 8 (coding exon 8) of the CRB2 gene. This alteration results from a C to G substitution at nucleotide position 2314, causing the leucine (L) at amino acid position 772 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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