ClinVar Miner

Submissions for variant NM_001195.5(BFSP1):c.1749A>G (p.Pro583=)

dbSNP: rs6080718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254295 SCV000306990 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000836651 SCV000978497 benign not provided 2018-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516821 SCV001725173 benign Cataract 33 2024-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516821 SCV001775003 benign Cataract 33 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836651 SCV005312394 benign not provided criteria provided, single submitter not provided

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