ClinVar Miner

Submissions for variant NM_001982.4(ERBB3):c.3223del (p.Ser1075fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005011429 SCV005636901 likely pathogenic Erythroleukemia, familial, susceptibility to; Lethal congenital contracture syndrome 2; Visceral neuropathy, familial, 1, autosomal recessive 2024-03-04 criteria provided, single submitter clinical testing

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