ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)

gnomAD frequency: 0.00058  dbSNP: rs140939826
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959500 SCV001106410 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000959500 SCV001901600 benign not provided 2018-11-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505439 SCV002813174 likely benign Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 2021-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000959500 SCV004125532 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KCNH1: PP2, BS1
PreventionGenetics, part of Exact Sciences RCV004553435 SCV004788243 likely benign KCNH1-related disorder 2020-12-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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