ClinVar Miner

Submissions for variant NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val)

gnomAD frequency: 0.00303  dbSNP: rs201011907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510063 SCV001716999 benign Cataract 5 multiple types 2023-05-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413695 SCV004139947 benign not provided 2022-03-01 criteria provided, single submitter clinical testing HSF4: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003955676 SCV004775374 benign HSF4-related disorder 2024-08-15 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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