ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1553+6T>C (rs199567321)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306123 SCV000365433 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000494444 SCV000582523 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The c.1553+6T>C variant in the CDHR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the natural splice donor site in intron 14, and is predicted to cause abnormal gene splicing. The c.1553+6T>C variant is observed in 155/66730 (0.23%) alleles from individuals of non-Finnish European background in large population cohorts in the ExAC dataset (Lek et al., 2016). We interpret c.1553+6T>C as a variant of uncertain significance.
Invitae RCV000494444 SCV001026332 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing

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