ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.2247T>C (p.Ala749=)

gnomAD frequency: 0.00525  dbSNP: rs143361492
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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 RCV000952503 SCV001099012 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952503 SCV002544194 benign not provided 2024-08-01 criteria provided, single submitter clinical testing HECW2: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000952503 SCV005244458 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003978233 SCV004792584 benign HECW2-related disorder 2019-04-22 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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