ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro)

gnomAD frequency: 0.00004  dbSNP: rs182595609
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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) RCV000082240 SCV000114189 uncertain significance not provided 2012-07-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000082240 SCV001155866 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001046573 SCV001210480 benign Kleefstra syndrome 1 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000082240 SCV001834776 benign not provided 2019-01-25 criteria provided, single submitter clinical testing

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