ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.771C>T (p.Pro257=)

gnomAD frequency: 0.00002  dbSNP: rs757589705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178215 SCV000230235 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000178215 SCV001501550 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing

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