ClinVar Miner

Submissions for variant NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe)

dbSNP: rs886038419
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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 RCV000245185 SCV000306988 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536798 SCV000653853 benign Cataract 33 2023-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001576658 SCV001803888 uncertain significance not provided 2021-02-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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