ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.1617G>A (p.Pro539=)

gnomAD frequency: 0.00216  dbSNP: rs151184308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180260 SCV000232659 benign not specified 2015-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314671 SCV000848158 likely benign Inborn genetic diseases 2016-11-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000895203 SCV001039232 benign not provided 2024-12-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000895203 SCV005210532 likely benign not provided criteria provided, single submitter not provided

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