ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1336+2322TTCT[2]

dbSNP: rs151137602
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199284 SCV001370361 benign Basal laminar drusen 2019-05-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.

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