ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1179G>A (p.Gln393=)

gnomAD frequency: 0.00018  dbSNP: rs147204600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002095765 SCV002395935 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017127 SCV005645993 uncertain significance Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive 2024-01-18 criteria provided, single submitter clinical testing

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