ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.4554C>T (p.Asn1518=)

gnomAD frequency: 0.00546  dbSNP: rs17310196
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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 RCV000879553 SCV001022590 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879553 SCV003916222 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing HECW2: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000879553 SCV005244448 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930485 SCV004744552 benign HECW2-related disorder 2019-04-26 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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