ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)

dbSNP: rs1592232580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145245 SCV003833554 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989124 SCV004805770 uncertain significance Visceral neuropathy, familial, 1, autosomal recessive 2024-03-29 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985171 SCV001133177 likely pathogenic Lethal congenital contracture syndrome 2 2019-09-26 no assertion criteria provided clinical testing

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