ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.-6C>T

gnomAD frequency: 0.00694  dbSNP: rs35827852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563119 SCV001786003 likely benign not provided 2024-02-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV001821893 SCV002071486 benign not specified 2019-04-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001563119 SCV005222985 likely benign not provided criteria provided, single submitter not provided

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