ClinVar Miner

Submissions for variant NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu)

gnomAD frequency: 0.01485  dbSNP: rs16999317
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871020 SCV001012615 benign Cataract 33 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001655625 SCV001869745 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655625 SCV005312392 benign not provided criteria provided, single submitter not provided

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