ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.237T>C (p.Ala79=)

gnomAD frequency: 0.00010  dbSNP: rs370345916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178368 SCV000230437 uncertain significance not provided 2015-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259756 SCV000451132 uncertain significance Fraser syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000178368 SCV002334807 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing

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