ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)

gnomAD frequency: 0.00001  dbSNP: rs749314857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000761198 SCV001245380 likely pathogenic Cone-rod dystrophy and hearing loss 2 2020-02-14 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Cone-rod dystrophy and hearing loss 2, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PVS1-Strong.
OMIM RCV000761198 SCV000891114 pathogenic Cone-rod dystrophy and hearing loss 2 2019-03-14 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002934 SCV001160969 pathogenic Usher syndrome 2019-06-23 no assertion criteria provided research

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