ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.3129+9A>C

gnomAD frequency: 0.33347  dbSNP: rs2292238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001613774 SCV001834590 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658316 SCV001876086 benign Lethal congenital contracture syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658317 SCV001876087 benign Visceral neuropathy, familial 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613774 SCV005233036 benign not provided criteria provided, single submitter not provided

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