ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1258+18G>A

gnomAD frequency: 0.38613  dbSNP: rs4251689
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080884 SCV000112786 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080884 SCV000310025 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001689626 SCV001907567 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795111 SCV002033512 benign Baller-Gerold syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795110 SCV002033513 benign Rapadilino syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795112 SCV002033514 benign Rothmund-Thomson syndrome type 2 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001795111 SCV002407556 benign Baller-Gerold syndrome 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001795112 SCV004017270 benign Rothmund-Thomson syndrome type 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689626 SCV005270336 benign not provided criteria provided, single submitter not provided

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