ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1620+82C>T

gnomAD frequency: 0.01046  dbSNP: rs34381903
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548538 SCV001768466 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001548538 SCV005222965 likely benign not provided criteria provided, single submitter not provided

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