ClinVar Miner

Submissions for variant NM_003571.4(BFSP2):c.1023+31T>C

gnomAD frequency: 0.43165  dbSNP: rs2737717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553912 SCV001775010 benign Cataract 12 multiple types 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001594479 SCV001827902 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594479 SCV005300085 benign not provided criteria provided, single submitter not provided

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