ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)

gnomAD frequency: 0.00020  dbSNP: rs187218889
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041439 SCV000065134 benign not specified 2016-02-18 criteria provided, single submitter clinical testing p.Ser3Arg in exon 1 of CLRN1: This variant is not expected to have clinical sign ificance because it has been identified in 0.8% (73/8624) of East Asian chromoso mes Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP s1 87218889).
Eurofins Ntd Llc (ga) RCV000726773 SCV000702941 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000726773 SCV000969870 likely benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Invitae RCV000726773 SCV001043263 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887880 SCV004705698 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001272456 SCV001454446 likely benign Usher syndrome type 3A 2019-12-13 no assertion criteria provided clinical testing

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