ClinVar Miner

Submissions for variant NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)

gnomAD frequency: 0.00773  dbSNP: rs553265417
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179573 SCV000231839 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292207 SCV000468768 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756601 SCV000884467 benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000756601 SCV001119572 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987860 SCV001137340 benign Retinitis pigmentosa 9 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756601 SCV004163890 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing RP9: PM4, BS1, BS2

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