ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.11009-5C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003393684 SCV004131485 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing HERC2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV004756512 SCV005367171 benign HERC2-related disorder 2024-08-22 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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