ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter)

dbSNP: rs1568820302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000761201 SCV001245378 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, PVS1-Strong.
OMIM RCV000761201 SCV000891117 pathogenic Cone-rod dystrophy and hearing loss 2 2019-03-14 no assertion criteria provided literature only

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