ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3502+24G>A

gnomAD frequency: 0.36505  dbSNP: rs2279243
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001695324 SCV001913025 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794485 SCV002033489 benign Baller-Gerold syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794484 SCV002033490 benign Rapadilino syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794486 SCV002033491 benign Rothmund-Thomson syndrome type 2 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001794485 SCV002482295 benign Baller-Gerold syndrome 2020-11-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001695324 SCV005270305 benign not provided criteria provided, single submitter not provided

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