ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.234+8A>T

gnomAD frequency: 0.52361  dbSNP: rs2271194
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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 RCV001661289 SCV001876082 benign Lethal congenital contracture syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001661290 SCV001876083 benign Visceral neuropathy, familial 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001713672 SCV001943695 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713672 SCV005233026 benign not provided criteria provided, single submitter not provided

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