ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.89C>T (p.Pro30Leu)

gnomAD frequency: 0.00237  dbSNP: rs56017157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994933 SCV001148761 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ERBB3: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000994933 SCV005191851 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003962975 SCV004778058 benign ERBB3-related disorder 2019-08-29 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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