ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.2666G>T (p.Gly889Val)

gnomAD frequency: 0.05287  dbSNP: rs2354336
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516497 SCV001724787 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730777 SCV001981024 benign Retinitis pigmentosa 86 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516497 SCV005270188 benign not provided criteria provided, single submitter not provided

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