ClinVar Miner

Submissions for variant NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser)

gnomAD frequency: 0.20403  dbSNP: rs6080719
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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 RCV000252973 SCV000306987 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000836649 SCV000978495 benign not provided 2018-04-02 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 RCV001510813 SCV001717950 benign Cataract 33 2024-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510813 SCV001775005 benign Cataract 33 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836649 SCV005312396 benign not provided criteria provided, single submitter not provided

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