ClinVar Miner

Submissions for variant NM_173651.4(FSIP2):c.8947G>A (p.Gly2983Ser)

gnomAD frequency: 0.00257  dbSNP: rs142675481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971860 SCV001119535 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971860 SCV001501782 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936135 SCV004750954 benign FSIP2-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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