ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg)

dbSNP: rs796065322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173188 SCV000224281 benign not specified 2016-06-09 criteria provided, single submitter clinical testing
Invitae RCV001520659 SCV001729819 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485117 SCV002802367 likely benign Retinitis pigmentosa 54 2022-01-07 criteria provided, single submitter clinical testing

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