ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.6195A>G (p.Thr2065=)

gnomAD frequency: 0.00081  dbSNP: rs182614197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886968 SCV001030499 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886968 SCV001748446 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing HERC1: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002487942 SCV002795848 likely benign Macrocephaly, dysmorphic facies, and psychomotor retardation 2022-05-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930683 SCV004751727 likely benign HERC1-related disorder 2019-09-10 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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