ClinVar Miner

Submissions for variant NM_173651.4(FSIP2):c.16542G>C (p.Val5514=)

gnomAD frequency: 0.00172  dbSNP: rs184298485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727179 SCV001962341 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing FSIP2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001727179 SCV005262379 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003941109 SCV004748661 likely benign FSIP2-related disorder 2019-06-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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