ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4964G>A (p.Ser1655Asn)

gnomAD frequency: 0.00003  dbSNP: rs572010193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763201 SCV001991816 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001763201 SCV002389919 likely benign not provided 2024-08-12 criteria provided, single submitter clinical testing

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