ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)

gnomAD frequency: 0.00052  dbSNP: rs140936904
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147034 SCV000194376 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724852 SCV000230921 uncertain significance not provided 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000724852 SCV000525302 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724852 SCV001005106 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724852 SCV004145586 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing PAFAH1B1: BP4, BP7

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