ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1879-15C>A

gnomAD frequency: 0.00929  dbSNP: rs35126141
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080887 SCV000112789 benign not specified 2013-01-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000444909 SCV000511379 likely benign not provided 2017-01-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000444909 SCV001772729 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055181 SCV002410900 benign Baller-Gerold syndrome 2024-01-31 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315605 SCV004017302 benign Rothmund-Thomson syndrome type 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000444909 SCV005222962 likely benign not provided criteria provided, single submitter not provided

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