ClinVar Miner

Submissions for variant NM_003571.4(BFSP2):c.892-17G>C

gnomAD frequency: 0.00831  dbSNP: rs17366213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732593 SCV001982851 likely benign not provided 2020-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073973 SCV002455131 benign Cataract 12 multiple types 2023-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001732593 SCV005257783 likely benign not provided criteria provided, single submitter not provided

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