ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1006-50T>G

gnomAD frequency: 0.02144  dbSNP: rs72929419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250535 SCV000306657 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001571698 SCV001796214 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001571698 SCV005215572 likely benign not provided criteria provided, single submitter not provided

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