ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe)

dbSNP: rs794728017
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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) RCV000180761 SCV000233249 benign not specified 2015-01-13 criteria provided, single submitter clinical testing
Invitae RCV002054158 SCV002348911 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454476 SCV004180613 likely benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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