ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)

gnomAD frequency: 0.98841  dbSNP: rs4925828
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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) RCV000153817 SCV000203397 benign not specified 2012-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520356 SCV001729429 benign Baller-Gerold syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520356 SCV002033499 benign Baller-Gerold syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795267 SCV002033500 benign Rapadilino syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795268 SCV002033501 benign Rothmund-Thomson syndrome type 2 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712146 SCV005270312 benign not provided criteria provided, single submitter not provided

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