ClinVar Miner

Submissions for variant NM_020760.4(HECW2):c.3000+7C>T

gnomAD frequency: 0.00041  dbSNP: rs200874055
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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 RCV000923626 SCV001069111 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000923626 SCV004698680 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing HECW2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000923626 SCV005244453 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003895617 SCV004720500 benign HECW2-related disorder 2019-06-26 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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