ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.566-10dup

dbSNP: rs5901624
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082806 SCV000114854 benign not specified 2013-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082806 SCV000316927 likely benign not specified 2016-02-21 criteria provided, single submitter clinical testing
GeneDx RCV001610384 SCV001837109 benign not provided 2020-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781411 SCV002026761 benign Cataract 40 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781410 SCV002026762 benign Nance-Horan syndrome 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001781410 SCV002420511 benign Nance-Horan syndrome 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490731 SCV002798731 benign Nance-Horan syndrome; Cataract 40 2022-04-25 criteria provided, single submitter clinical testing

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