ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=)

gnomAD frequency: 0.30797  dbSNP: rs2271189
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001654523 SCV001867998 benign not provided 2019-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658383 SCV001876090 benign Lethal congenital contracture syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658384 SCV001876091 benign Visceral neuropathy, familial 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001654523 SCV005233037 benign not provided criteria provided, single submitter not provided

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