ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.2616+16G>C

dbSNP: rs76079275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661291 SCV001876084 benign Lethal congenital contracture syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001661292 SCV001876085 benign Visceral neuropathy, familial 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001751807 SCV002004904 likely benign not provided 2019-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001751807 SCV005215440 likely benign not provided criteria provided, single submitter not provided

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