ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.270C>G (p.Leu90=)

gnomAD frequency: 0.00001  dbSNP: rs143232961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981414 SCV001129386 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890143 SCV004705692 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001275852 SCV001461430 likely benign Usher syndrome type 3A 2020-01-01 no assertion criteria provided clinical testing

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